MMA
MCID: MTH008
MIFTS: 50

Methylmalonic Acidemia (MMA)

Categories: Blood diseases, Endocrine diseases, Genetic diseases, Liver diseases, Metabolic diseases, Rare diseases

Aliases & Classifications for Methylmalonic Acidemia

MalaCards integrated aliases for Methylmalonic Acidemia:

Name: Methylmalonic Acidemia 12 75 53 25 29 6 15
Methylmalonic Aciduria 12 25 37 29 55
Mma 53 25
Isolated Methylmalonic Acidemia 25
Acidemia, Methylmalonic 53

Classifications:



External Ids:

Disease Ontology 12 DOID:14749
KEGG 37 H00174

Summaries for Methylmalonic Acidemia

NIH Rare Diseases : 53 Methylmalonic acidemia is an inherited condition in which the body is unable to process certain proteins and fats properly. Signs and symptoms usually appear in early infancy and vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, lethargy, hepatomegaly, and failure to thrive. Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and pancreatitis. Without treatment, this condition can lead to coma and death in some cases. Mutations in the MUT, MMAA, MMAB, MMADHC, and MCEE genes cause methylmalonic acidemia. It is inherited in an autosomal recessive fashion. Methylmalonic acidemia is treated with a low-protein, high-calorie diet, certain medications, antibiotics and, in some cases, organ transplantation.

MalaCards based summary : Methylmalonic Acidemia, also known as methylmalonic aciduria, is related to methylmalonic acidemia with homocystinuria and isolated methylmalonic acidemia. An important gene associated with Methylmalonic Acidemia is MMAA (Metabolism Of Cobalamin Associated A), and among its related pathways/superpathways are Valine, leucine and isoleucine degradation and Metabolism. The drugs carbamide peroxide and Metronidazole have been mentioned in the context of this disorder. Affiliated tissues include liver, kidney and pancreas.

Disease Ontology : 12 An organic acidemia that involves an accumulation of methylmalonic acid in the blood.

Genetics Home Reference : 25 Methylmalonic acidemia is an inherited disorder in which the body is unable to process certain proteins and fats (lipids) properly. The effects of methylmalonic acidemia, which usually appear in early infancy, vary from mild to life-threatening. Affected infants can experience vomiting, dehydration, weak muscle tone (hypotonia), developmental delay, excessive tiredness (lethargy), an enlarged liver (hepatomegaly), and failure to gain weight and grow at the expected rate (failure to thrive). Long-term complications can include feeding problems, intellectual disability, chronic kidney disease, and inflammation of the pancreas (pancreatitis). Without treatment, this disorder can lead to coma and death in some cases.

KEGG : 37
Methylmalonic aciduria (MMA) is caused by a deficiency of methylmalonyl-CoA mutase (mut type), which is a vitamin B12-dependent enzyme. Defects of adenosylcobalamin metabolism lead to variant forms of MMA (cblA and cblB type).

Wikipedia : 75 Methylmalonic acidemia , also called methylmalonic aciduria,[help 1] is an autosomal recessive metabolic... more...

Related Diseases for Methylmalonic Acidemia

Diseases in the Methylmalonic Acidemia family:

Methylmalonic Acidemia Due to Transcobalamin Receptor Defect

Diseases related to Methylmalonic Acidemia via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 332, show less)
# Related Disease Score Top Affiliating Genes
1 methylmalonic acidemia with homocystinuria 35.0 MMADHC MMACHC
2 isolated methylmalonic acidemia 34.7 MMUT MMAB
3 vitamin b12-responsive methylmalonic acidemia 34.6 MTR MMAA
4 methylmalonic aciduria, cblb type 34.1 MVK MMAB MMAA
5 methylmalonic aciduria and homocystinuria, cblc type 33.5 MTR MMD MMACHC
6 transcobalamin ii deficiency 31.2 MTR MMUT MMD MMADHC MMAA LMBRD1
7 homocystinuria 30.7 MTR MMADHC MMACHC LMBRD1
8 organic acidemia 30.5 PCCA MMADHC MMACHC MMAB MMAA
9 seizure disorder 30.4 MTR CDKL5
10 megaloblastic anemia 30.4 MTR MMADHC LMBRD1
11 mevalonic aciduria 30.3 MVK MMAB
12 disorders of intracellular cobalamin metabolism 30.0 MTR MMADHC MMACHC LMBRD1 CCDC163
13 methylmalonic aciduria due to methylmalonyl-coa mutase deficiency 29.9 SUCLG1 MTR MMUT MMADHC MMACHC MMAB
14 childhood kidney cell carcinoma 29.4 TSC2 MMD
15 methylmalonic acidemia and homocysteinemia, cblx type 13.0
16 mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.8
17 methylmalonic acidemia due to transcobalamin receptor defect 12.7
18 methylmalonic aciduria and homocystinuria, cbld type 12.5
19 suclg1-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
20 mitochondrial dna depletion syndrome 5 12.5
21 methylmalonic acidemia without homocystinuria 12.5
22 sucla2-related mitochondrial dna depletion syndrome, encephalomyopathic form with methylmalonic aciduria 12.5
23 methylmalonic aciduria, cbla type 12.4
24 methylmalonic acidemia with homocystinuria type cblj 12.4
25 methylmalonic aciduria and homocystinuria, cblf type 12.2
26 combined malonic and methylmalonic aciduria 12.1
27 amyotrophy, monomelic 12.0
28 monoclonal mast cell activation syndrome 11.9
29 methylmalonyl-coa epimerase deficiency 11.9
30 mitochondrial dna depletion syndrome 9 11.8
31 methylmalonyl-coenzyme a mutase deficiency 11.7
32 methylmalonic aciduria, transient, due to transcobalamin receptor defect 11.7
33 o'sullivan-mcleod syndrome 11.6
34 striatonigral degeneration, infantile 11.5
35 methylmalonic aciduria and homocystinuria, cblj type 11.4
36 methylmalonic aciduria and homocystinuria type cble 11.4
37 methylmalonic aciduria and homocystinuria type cblg 11.4
38 homocystinuria-megaloblastic anemia, cble complementation type 11.4
39 homocystinuria-megaloblastic anemia, cblg complementation type 11.4
40 mohr-tranebjaerg syndrome 11.4
41 carbonic anhydrase va deficiency, hyperammonemia due to 10.8
42 metabolic acidosis 10.8
43 propionic acidemia 10.8
44 homocysteinemia 10.7
45 inherited metabolic disorder 10.6
46 hypotonia 10.6
47 autosomal recessive disease 10.5
48 hypoglycemia 10.5
49 dystonia 10.5
50 pancytopenia 10.4
51 optic nerve disease 10.4
52 lactic acidosis 10.4
53 hyperglycemia 10.4
54 end stage renal failure 10.4
55 ocular motor apraxia 10.4
56 diabetes mellitus, ketosis-prone 10.4
57 neutropenia 10.4
58 renal tubular acidosis 10.4
59 tremor 10.4
60 hepatoblastoma 10.4
61 mastitis 10.3
62 arts syndrome 10.3
63 isovaleric acidemia 10.3
64 hydrocephalus 10.3
65 hyperuricemia 10.3
66 chronic kidney disease 10.3
67 neuropathy 10.3
68 congenital hydrocephalus 10.3
69 encephalopathy 10.3
70 cystathioninuria 10.3
71 mitochondrial dna depletion syndrome 10.3
72 peripheral nervous system disease 10.3
73 pulmonary hypertension, primary, 1 10.2
74 3-methylglutaconic aciduria, type iii 10.2
75 stroke, ischemic 10.2
76 abdominal obesity-metabolic syndrome 1 10.2
77 vitamin b12 deficiency 10.2
78 thrombocytopenia 10.2
79 acute kidney failure 10.2
80 kidney disease 10.2
81 cerebrovascular disease 10.2
82 retinal degeneration 10.2
83 lung disease 10.2
84 microcephaly 10.2
85 cerebral atrophy 10.2
86 thrombotic microangiopathy 10.2
87 strabismus 10.2
88 homocystinuria due to cystathionine beta-synthase deficiency 10.2
89 malonyl-coa decarboxylase deficiency 10.2
90 ataxia and polyneuropathy, adult-onset 10.2
91 kearns-sayre syndrome 10.2
92 branchiootic syndrome 1 10.2
93 west syndrome 10.2
94 scoliosis 10.2
95 glossitis 10.2
96 ventricular septal defect 10.2
97 heart septal defect 10.2
98 hemolytic anemia 10.2
99 cataract 10.2
100 subacute delirium 10.2
101 mechanical strabismus 10.2
102 pulmonary embolism 10.2
103 spastic paraparesis 10.2
104 myoclonus 10.2
105 spasticity 10.2
106 mitochondrial dna depletion syndrome, encephalomyopathic form 10.2
107 sleep apnea 10.2
108 impotence 10.2
109 brugada syndrome 10.1
110 arteriovenous malformation 10.1
111 dystonia, dopa-responsive 10.1
112 diaphragmatic hernia, congenital 10.1
113 renal cell carcinoma, nonpapillary 10.1
114 ichthyosis vulgaris 10.1
115 renal tubular acidosis, proximal 10.1
116 tuberous sclerosis 1 10.1
117 acrodermatitis enteropathica, zinc-deficiency type 10.1
118 alpha-methylacetoacetic aciduria 10.1
119 duodenal atresia 10.1
120 enterocolitis 10.1
121 3-hydroxyacyl-coa dehydrogenase deficiency 10.1
122 hemolytic uremic syndrome, atypical 1 10.1
123 n-acetylglutamate synthase deficiency 10.1
124 maple syrup urine disease 10.1
125 phenylketonuria 10.1
126 leber optic atrophy 10.1
127 pancreatic beta cell agenesis with neonatal diabetes mellitus 10.1
128 mitochondrial trifunctional protein deficiency 10.1
129 long-chain 3-hydroxyacyl-coa dehydrogenase deficiency 10.1
130 cholangitis, primary sclerosing 10.1
131 cyanosis, transient neonatal 10.1
132 aspergillosis 10.1
133 corpus callosum, agenesis of, with facial anomalies and cerebellar ataxia 10.1
134 chorea, childhood-onset, with psychomotor retardation 10.1
135 deficiency anemia 10.1
136 pulmonary hypertension 10.1
137 ptosis 10.1
138 suppression amblyopia 10.1
139 amblyopia 10.1
140 common cold 10.1
141 short bowel syndrome 10.1
142 interstitial nephritis 10.1
143 renal hypertension 10.1
144 respiratory failure 10.1
145 heart disease 10.1
146 hemopericardium 10.1
147 neonatal diabetes mellitus 10.1
148 pericardial effusion 10.1
149 visual epilepsy 10.1
150 ecthyma 10.1
151 hemolytic-uremic syndrome 10.1
152 nephrocalcinosis 10.1
153 choreatic disease 10.1
154 periventricular leukomalacia 10.1
155 gout 10.1
156 tuberous sclerosis 10.1
157 toxic shock syndrome 10.1
158 sclerosing cholangitis 10.1
159 papilledema 10.1
160 ichthyosis 10.1
161 cheilitis 10.1
162 status epilepticus 10.1
163 epilepsy 10.1
164 macrocytic anemia 10.1
165 thrombophilia 10.1
166 acrodermatitis 10.1
167 bronchiolitis 10.1
168 movement disease 10.1
169 congestive heart failure 10.1
170 paraplegia 10.1
171 viral encephalitis 10.1
172 mitochondrial metabolism disease 10.1
173 muscular atrophy 10.1
174 acute cor pulmonale 10.1
175 vasculitis 10.1
176 perinatal necrotizing enterocolitis 10.1
177 intracranial hypertension 10.1
178 cholangitis 10.1
179 pathologic nystagmus 10.1
180 lingual-facial-buccal dyskinesia 10.1
181 47,xyy 10.1
182 hypermobile ehlers-danlos syndrome 10.1
183 mitochondrial disorders 10.1
184 aminoacidopathies 10.1
185 cdkl5 deficiency disorder 10.1
186 distal renal tubular acidosis 10.1
187 enteropathica 10.1
188 growth hormone deficiency 10.1
189 hypoadrenalism 10.1
190 hypoaldosteronism 10.1
191 uniparental disomy of chromosome 6 10.1
192 transcobalamin deficiency 10.1
193 hypertonia 10.1
194 posttransplant acute limbic encephalitis 10.1
195 homocystinuria without methylmalonic aciduria 10.1
196 ethylene glycol poisoning 10.1
197 overgrowth syndrome 10.1
198 hereditary optic neuropathy 10.1
199 atrial standstill 1 10.1
200 gastroesophageal reflux 10.1
201 hepatocellular carcinoma 10.1
202 cholestasis, intrahepatic, of pregnancy, 1 10.1
203 pernicious anemia 10.1
204 dowling-degos disease 1 10.1
205 neural tube defects 10.1
206 triiodothyronine receptor auxiliary protein 10.1
207 galactokinase deficiency 10.1
208 galactosemia 10.1
209 hartnup disorder 10.1
210 leigh syndrome 10.1
211 optic atrophy 6 10.1
212 pulmonary venoocclusive disease 1, autosomal dominant 10.1
213 retinitis pigmentosa 10.1
214 retinitis pigmentosa 11 10.1
215 macular degeneration, age-related, 1 10.1
216 citrullinemia, type ii, adult-onset 10.1
217 orthostatic intolerance 10.1
218 citrullinemia, type ii, neonatal-onset 10.1
219 atrial septal defect 2 10.1
220 spondylocostal dysostosis 3, autosomal recessive 10.1
221 dystonia, dopa-responsive, due to sepiapterin reductase deficiency 10.1
222 methylmalonate semialdehyde dehydrogenase deficiency 10.1
223 ventricular septal defect 1 10.1
224 ataxia, combined cerebellar and peripheral, with hearing loss and diabetes mellitus 10.1
225 encephalopathy, progressive, early-onset, with episodic rhabdomyolysis 10.1
226 hypermethioninemia 10.1
227 3-methylcrotonyl-coa carboxylase deficiency 10.1
228 cardiac arrest 10.1
229 hepatic veno-occlusive disease 10.1
230 sensorineural hearing loss 10.1
231 neuroretinitis 10.1
232 leukodystrophy 10.1
233 partial optic atrophy 10.1
234 hemiplegia 10.1
235 neonatal anemia 10.1
236 mitral valve insufficiency 10.1
237 iron deficiency anemia 10.1
238 nephrotic syndrome 10.1
239 bronchopneumonia 10.1
240 dilated cardiomyopathy 10.1
241 diarrhea 10.1
242 cholestasis 10.1
243 hypothyroidism 10.1
244 atrial heart septal defect 10.1
245 dysostosis 10.1
246 dental caries 10.1
247 focal epilepsy 10.1
248 arteriosclerosis 10.1
249 iron metabolism disease 10.1
250 hereditary spastic paraplegia 10.1
251 acute pancreatitis 10.1
252 glomerulonephritis 10.1
253 interstitial lung disease 10.1
254 myelitis 10.1
255 retinitis 10.1
256 gastritis 10.1
257 tricuspid valve insufficiency 10.1
258 myopathy 10.1
259 uremia 10.1
260 demyelinating polyneuropathy 10.1
261 pulmonary venoocclusive disease 10.1
262 eye disease 10.1
263 retinal disease 10.1
264 multiple carboxylase deficiency 10.1
265 molluscum contagiosum 10.1
266 atrophic gastritis 10.1
267 diabetes mellitus 10.1
268 encephalitis 10.1
269 stomatitis 10.1
270 refractive error 10.1
271 alopecia 10.1
272 hypertrophic cardiomyopathy 10.1
273 paresthesia 10.1
274 femoral agenesis/hypoplasia 10.1
275 acyl-coa dehydrogenase deficiency 10.1
276 disorder of branched-chain amino acid metabolism 10.1
277 vitamin metabolic disorder 9.9 MTR MMADHC LMBRD1
278 apnea, obstructive sleep 9.9
279 bladder cancer 9.9
280 hernia, hiatus 9.9
281 argininosuccinic aciduria 9.9
282 visceral steatosis, congenital 9.9
283 hyperornithinemia-hyperammonemia-homocitrullinuria syndrome 9.9
284 hypogonadism, male 9.9
285 moyamoya disease 1 9.9
286 myasthenia gravis 9.9
287 body mass index quantitative trait locus 11 9.9
288 ophthalmoplegia, external, and myopia 9.9
289 prostatic hyperplasia, benign 9.9
290 body mass index quantitative trait locus 9 9.9
291 body mass index quantitative trait locus 8 9.9
292 paragangliomas 3 9.9
293 body mass index quantitative trait locus 1 9.9
294 body mass index quantitative trait locus 4 9.9
295 body mass index quantitative trait locus 10 9.9
296 myopathy, myosin storage, autosomal dominant 9.9
297 body mass index quantitative trait locus 7 9.9
298 human immunodeficiency virus type 1 9.9
299 west nile virus 9.9
300 body mass index quantitative trait locus 12 9.9
301 body mass index quantitative trait locus 14 9.9
302 leukemia, acute lymphoblastic 9.9
303 body mass index quantitative trait locus 18 9.9
304 body mass index quantitative trait locus 19 9.9
305 body mass index quantitative trait locus 20 9.9
306 fetal alcohol syndrome 9.9
307 alcohol-related birth defect 9.9
308 lymphoma 9.9
309 pain agnosia 9.9
310 endometritis 9.9
311 osteonecrosis 9.9
312 lymphocytic leukemia 9.9
313 dentin caries 9.9
314 pre-eclampsia 9.9
315 prostatic hypertrophy 9.9
316 dental pulp necrosis 9.9
317 keratosis 9.9
318 hypogonadism 9.9
319 prostatic adenoma 9.9
320 mastocytosis 9.9
321 liver disease 9.9
322 severe combined immunodeficiency 9.9
323 hypogonadotropism 9.9
324 hard palate cancer 9.9
325 achalasia 9.9
326 mast cell activation syndrome 9.9
327 ornithinemia 9.9
328 dysphagia 9.9
329 moyamoya angiopathy 9.9
330 rare surgical neurologic disease 9.9
331 holocarboxylase synthetase deficiency 9.7 MMUT MMD LMBRD1
332 amino acid metabolic disorder 9.3 PCCA MTR MMUT MMD MMACHC MMAA

Graphical network of the top 20 diseases related to Methylmalonic Acidemia:



Diseases related to Methylmalonic Acidemia

Symptoms & Phenotypes for Methylmalonic Acidemia

Drugs & Therapeutics for Methylmalonic Acidemia

Drugs for Methylmalonic Acidemia (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(showing 28, show less)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
carbamide peroxide Approved Phase 2, Phase 3 124-43-6
2
Metronidazole Approved Phase 3 443-48-1 4173
3
Biotin Approved, Investigational, Nutraceutical Phase 3 58-85-5 171548
4 carnitine Phase 3
5 Anti-Bacterial Agents Phase 3
6 Antiparasitic Agents Phase 3
7 Antiprotozoal Agents Phase 3
8 Vitamin B7 Phase 3
9 Anti-Infective Agents Phase 3
10
Methylcobalamin Approved, Experimental, Investigational Phase 2 13422-55-4
11
Hydroxocobalamin Approved Phase 2 13422-51-0 11953898 15589840
12
Cyanocobalamin Approved, Nutraceutical Phase 2 68-19-9 44176380
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
Ornithine Approved, Nutraceutical Phase 2 70-26-8, 3184-13-2 6262
15
Glutamic acid Approved, Nutraceutical Phase 2 56-86-0 33032
16
Cobalamin Experimental Phase 2 13408-78-1 6857388
17 Vitamins Phase 2
18 Vitamin B 12 Phase 2
19 Vitamin B Complex Phase 2
20 Vitamin B12 Phase 2
21 Micronutrients Phase 2
22 Ubiquinone Phase 2
23 Trace Elements Phase 2
24 Antioxidants Phase 2
25 Vitamin B9 Phase 2
26 Hematinics Phase 2
27 Folate Phase 2
28 Nutrients Phase 2

Interventional clinical trials:

(showing 13, show less)
# Name Status NCT ID Phase Drugs
1 Randomized Multicentre Comparative Trial to Evaluate the Long Term Effectiveness of the Use of Carbaglu® in Patients With Propionic Acidemia (PA) or Methylmalonic Acidemia (MMA) Completed NCT02426775 Phase 3 Carglumic Acid
2 N-Carbamylglutamate (Carbaglu) In The Treatment Of Hyperammonemia Completed NCT00843921 Phase 2, Phase 3 N-carbamylglutamate
3 Phase 2, Double-Blind, Placebo Controlled Clinical Trial of EPI-743 in Subjects With Cobalamin C Defect Completed NCT01793090 Phase 2 Epi-743
4 Hypothermia Treatment in Hyperammonemia and Encephalopathy Completed NCT01624311 Phase 2
5 A Global, Phase 1/2, Open Label, Dose Escalation Study to Evaluate the Safety, Pharmacodynamics, and Pharmacokinetics of mRNA-3704 in Patients With Isolated Methylmalonic Acidemia Due to Methylmalonyl-CoA Mutase Deficiency Recruiting NCT03810690 Phase 1, Phase 2
6 Short-Term Outcome of N-Carbamylglutamate in the Treatment of Acute Hyperammonemia Active, not recruiting NCT01599286 Phase 2 Carbaglu;Placebo;Standard of Care Treatment
7 A Phase 2 Study of Ataluren (PTC124®) as an Oral Treatment for Nonsense Mutation Methylmalonic Acidemia Terminated NCT01141075 Phase 2 Ataluren (PTC124)
8 Long-term Outcome of N-Carbamylglutamate Treatment in Propionic Acidemia and Methylmalonic Acidemia Terminated NCT01597440 Phase 2 N-carbamylglutamate
9 Increasing Ureagenesis in Inborn Errors of Metabolism With N-Carbamylglutamate Withdrawn NCT01341379 Phase 2 N-carbamylglutamate
10 Combined Malonic and Methylmalonic Aciduria (CMAMMA): Gene Identification and Outcome Study Unknown status NCT01289158
11 Salivary Proteomics in Disease and Health Completed NCT00100204
12 A Longitudinal, Exploratory, Natural History Study to Further Characterize and Describe the Signs and Symptoms of Patients With Organic Acidemias Recruiting NCT03484767
13 Clinical and Basic Investigations of Methylmalonic Acidemia (MMA) and Related Disorders Recruiting NCT00078078

Search NIH Clinical Center for Methylmalonic Acidemia

Genetic Tests for Methylmalonic Acidemia

Genetic tests related to Methylmalonic Acidemia:

# Genetic test Affiliating Genes
1 Methylmalonic Acidemia 29
2 Methylmalonic Aciduria 29

Anatomical Context for Methylmalonic Acidemia

MalaCards organs/tissues related to Methylmalonic Acidemia:

41
Liver, Kidney, Pancreas, Brain, Testes, Cortex, Heart

Publications for Methylmalonic Acidemia

Articles related to Methylmalonic Acidemia:

(showing 1074, show less)
# Title Authors PMID Year
1
Isolated Methylmalonic Acidemia 38 71
20301409 2005
2
[Clinical analysis of methylmalonic acidemia and hyperhomocysteinemia with diffuse lung disease as an initial or main presentation]. 38
31352748 2019
3
Differential Intraoperative Effect of Liver Transplant in Different Inborn Errors of Metabolism. 38
30964822 2019
4
Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future. 38
31303064 2019
5
[Construction of a mouse model of cblC type methylmalonic acidemia with W203X mutation based on the CRISPR/Cas9 technology]. 38
31416510 2019
6
Ilex paraguariensis Attenuates Changes in Mortality, Behavioral and Biochemical Parameters Associated to Methyl Malonate or Malonate Exposure in Drosophila melanogaster. 38
31422521 2019
7
Allosteric Regulation of Oligomerization by a B12 Trafficking G-Protein Is Corrupted in Methylmalonic Aciduria. 38
31056463 2019
8
Prenatal diagnosis of methylmalonic aciduria from amniotic fluid using genetic and biochemical approaches. 38
31278756 2019
9
Long-term efficacy and safety of mRNA therapy in two murine models of methylmalonic acidemia. 38
31303505 2019
10
Optic neuropathy in classical methylmalonic acidemia. 38
31269850 2019
11
The Value of 1H-MRS and MRI in Combined Methylmalonic Aciduria and Homocystinuria. 38
30839328 2019
12
Liver neoplasms in methylmalonic aciduria: An emerging complication. 38
31260114 2019
13
[Kidney disease in cobalamin C deficiency]. 38
31130431 2019
14
A New Era for Rare Genetic Diseases: Messenger RNA Therapy. 38
31179759 2019
15
Primary Pulmonary Hypertension Associated with Asymptomatic Methylmalonic Aciduria in a Child. 38
31142418 2019
16
Treatable cause of hereditary spastic paraplegia: eight cases of combined homocysteinaemia with methylmalonic aciduria. 38
31203424 2019
17
Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency. 38
30682498 2019
18
Novel HILIC-ESI-MS method for urinary profiling of MSUD and methylmalonic aciduria biomarkers. 38
31251316 2019
19
Evaluation of long-term effectiveness of the use of carglumic acid in patients with propionic acidemia (PA) or methylmalonic acidemia (MMA): study protocol for a randomized controlled trial. 38
31196016 2019
20
Long-term effect of subthalamic and pallidal deep brain stimulation for status dystonicus in children with methylmalonic acidemia and GNAO1 mutation. 38
31076915 2019
21
Clinical Application of LC-MS/MS in the Follow-Up for Treatment of Children with Methylmalonic Aciduria. 38
31049874 2019
22
MCEE Mutations in an Adult Patient with Parkinson's Disease, Dementia, Stroke and Elevated Levels of Methylmalonic Acid. 38
31146325 2019
23
Pathophysiology of propionic and methylmalonic acidemias. Part 1: Complications. 38
31119747 2019
24
Pathophysiology of propionic and methylmalonic acidemias. Part 2: Treatment strategies. 38
31119742 2019
25
Methylmalonic acidemia/propionic acidemia - the biochemical presentation and comparing the outcome between liver transplantation versus non-liver transplantation groups. 38
30940196 2019
26
Decreased plasma l-arginine levels in organic acidurias (MMA and PA) and decreased plasma branched-chain amino acid levels in urea cycle disorders as a potential cause of growth retardation: Options for treatment. 38
30827756 2019
27
Continuous venovenous hemodiafiltration in the treatment of newborns with an inborn metabolic disease: a single center experience 38
31014046 2019
28
Hydrocephalus in cblC type methylmalonic acidemia. 38
30564975 2019
29
Systematic literature review and meta-analysis on the epidemiology of methylmalonic acidemia (MMA) with a focus on MMA caused by methylmalonyl-CoA mutase (mut) deficiency. 38
31023387 2019
30
Combining newborn metabolic and DNA analysis for second-tier testing of methylmalonic acidemia. 38
30209273 2019
31
Successful liver transplantation using a whole liver graft with gallbladder agenesis: First report in pediatric liver transplantation. 38
30575232 2019
32
Mutation analysis of genes related to methylmalonic acidemia: identification of eight novel mutations. 38
30712249 2019
33
Evaluation of dietary treatment and amino acid supplementation in organic acidurias and urea-cycle disorders: On the basis of information from a European multicenter registry. 38
30734935 2019
34
Age-Specific Cut-off Values of Amino Acids and Acylcarnitines for Diagnosis of Inborn Errors of Metabolism Using Liquid Chromatography Tandem Mass Spectrometry. 38
30723736 2019
35
A comprehensive multiplex PCR based exome-sequencing assay for rapid bloodspot confirmation of inborn errors of metabolism. 38
30612563 2019
36
Clinical feature and outcome of late-onset cobalamin C disease patients with neuropsychiatric presentations: a Chinese case series. 38
30863077 2019
37
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: Benign clinical course in an unselected cohort. 38
30740739 2019
38
Elevated methylmalonic acidemia (MMA) screening markers in Hispanic and preterm newborns. 38
30448007 2019
39
Do not Miss Rare and Treatable Cause of Early-Onset Hemolytic Uremic Syndrome: Cobalamin C Deficiency. 38
31137025 2019
40
The Value of Liver Transplantation for Methylmalonic Acidemia. 38
30949461 2019
41
Cobalamin D Deficiency Identified Through Newborn Screening. 38
30097992 2019
42
Inherited selective cobalamin malabsorption in Komondor dogs associated with a CUBN splice site variant. 38
30591068 2018
43
Conducting an investigator-initiated randomized double-blinded intervention trial in acute decompensation of inborn errors of metabolism: Lessons from the N-Carbamylglutamate Consortium. 38
30613471 2018
44
FGF21 underlies a hormetic response to metabolic stress in methylmalonic acidemia. 38
30518688 2018
45
Quantification of methylcitrate in dried urine spots by liquid chromatography tandem mass spectrometry for the diagnosis of propionic and methylmalonic acidemias. 38
30217751 2018
46
High Risk Stratified Neonatal Screening. 38
29542068 2018
47
The utility of EEG monitoring in neonates with hyperammonemia due to inborn errors of metabolism. 38
30197275 2018
48
Fibroblast growth factor 21 as a biomarker for long-term complications in organic acidemias. 38
30159853 2018
49
Differential response to renal replacement therapy in neonatal-onset inborn errors of metabolism. 38
29888426 2018
50
Propionate-induced changes in cardiac metabolism, notably CoA trapping, are not altered by l-carnitine. 38
30016154 2018
51
Transcellular transport of cobalamin in aortic endothelial cells. 38
29741927 2018
52
Ammonia role in glial dysfunction in methylmalonic acidemia. 38
30008432 2018
53
Autozygosity mapping of methylmalonic acidemia associated genes by short tandem repeat markers facilitates the identification of five novel mutations in an Iranian patient cohort. 38
30022420 2018
54
Liver Transplantation for Propionic Acidemia and Methylmalonic Acidemia: Perioperative Management and Clinical Outcomes. 38
30080956 2018
55
Diversity in the incidence and spectrum of organic acidemias, fatty acid oxidation disorders, and amino acid disorders in Asian countries: Selective screening vs. expanded newborn screening. 38
29946514 2018
56
Favorable course of previously undiagnosed Methylmalonic Aciduria with Homocystinuria (cblC type) presenting with pulmonary hypertension and aHUS in a young child: a case report. 38
30103768 2018
57
New in vitro model derived from brain-specific Mut-/- mice confirms cerebral ammonium accumulation in methylmalonic aciduria. 38
29934063 2018
58
A male case with CDKL5-associated encephalopathy manifesting transient methylmalonic acidemia. 38
29510241 2018
59
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. 38
30157442 2018
60
Molecular genetic characterization of cblC defects in 126 pedigrees and prenatal genetic diagnosis of pedigrees with combined methylmalonic aciduria and homocystinuria. 38
30157807 2018
61
[Analysis of MUT gene mutations and prenatal diagnosis for 20 pedigrees affected with isolated methylmalonic aciduria]. 38
30098236 2018
62
Mild clinical features of isolated methylmalonic acidemia associated with a novel variant in the MMAA gene in two Chinese siblings. 38
29996803 2018
63
Shunt surgery for early-onset severe hydrocephalus in methylmalonic acidemia: report on two cases and review of the literature. 38
29488077 2018
64
Late-onset cobalamin C deficiency Chinese sibling patients with neuropsychiatric presentations. 38
29374341 2018
65
Management of adult-onset methylmalonic acidemia with hypotonia and acute respiratory failure: A case report. 38
29924026 2018
66
[Mutation analysis for a methylmalonic acidemia pedigree without proband by high-throughput sequencing]. 38
29896740 2018
67
Transcobalamin receptor defect: Identification of two new cases through positive newborn screening for propionic/methylmalonic aciduria and long-term outcome. 38
29663633 2018
68
Acrodermatitis dysmetabolica as a sign of methylmalonic aciduria decompensation. 38
29881561 2018
69
Hemolytic uremic syndrome with dual caution in an infant: cobalamin C defect and complement dysregulation successfully treated with eculizumab. 38
29558000 2018
70
Incidence of maple syrup urine disease, propionic acidemia, and methylmalonic aciduria from newborn screening data. 38
30023298 2018
71
[Novel treatments in neurometabolic diseases: the importance of chaperones]. 38
29876912 2018
72
[Heterogeneous phenotypes, genotypes, treatment and prevention of 1 003 patients with methylmalonic acidemia in the mainland of China]. 38
29886603 2018
73
Combined malonic and methylmalonic aciduria due to ACSF3 mutations: benign clinical course in an unselected cohort. 38
29858964 2018
74
Flux analysis of inborn errors of metabolism. 38
29318410 2018
75
Atypical adult-onset methylmalonic acidemia and homocystinuria presenting as hemolytic uremic syndrome. 38
29294253 2018
76
Generation and characterization of two human iPSC lines from patients with methylmalonic acidemia cblB type. 38
29660608 2018
77
Methylmalonic acidemia: Current status and research priorities. 38
29862147 2018
78
Diagnostic dilemma of patients with methylmalonic aciduria: Experience from a tertiary care centre in Pakistan. 38
29808036 2018
79
Long-term liver disease in methylmalonic and propionic acidemias. 38
29433791 2018
80
BRANCHED CHAIN AMINO ACIDS AT THE EDGE BETWEEN MENDELIAN AND COMPLEX DISORDERS. 38
31149264 2018
81
Whole-exome Sequencing Helps the Diagnosis and Treatment in Children with Neurodevelopmental Delay Accompanied Unexplained Dyspnea. 38
29581464 2018
82
Spectrum of bone marrow pathology and hematological abnormalities in methylmalonic acidemia. 38
29330964 2018
83
TAT-MTS-MCM fusion proteins reduce MMA levels and improve mitochondrial activity and liver function in MCM-deficient cells. 38
29265583 2018
84
[Acute liver failure related to inherited metabolic diseases in young children]. 38
28411097 2018
85
New perspectives for pharmacological chaperoning treatment in methylmalonic aciduria cblB type. 38
29197662 2018
86
Inborn errors of metabolism associated with hyperglycaemic ketoacidosis and diabetes mellitus: narrative review. 38
30166758 2018
87
Effects of medical food leucine content in the management of methylmalonic and propionic acidemias. 38
29035969 2018
88
Expanded Newborn Screening for Inborn Errors of Metabolism and Genetic Characteristics in a Chinese Population. 38
29731766 2018
89
Newborn Screening for Methylmalonic Acidemia in a Chinese Population: Molecular Genetic Confirmation and Genotype Phenotype Correlations. 38
30728829 2018
90
Secondary Hemophagocytic Syndrome Associated with COG6 Gene Defect: Report and Review. 38
29445937 2018
91
Clinical, Molecular, and Computational Analysis in two cases with mitochondrial encephalomyopathy associated with SUCLG1 mutation in a consanguineous family. 38
29217198 2018
92
Systemic Messenger RNA Therapy as a Treatment for Methylmalonic Acidemia. 38
29262333 2017
93
[Clinical analysis of 15 851 children at risk of inherited metabolic diseases]. 38
29237523 2017
94
Optical coherence tomography morphology and evolution in cblC disease-related maculopathy in a case series of very young patients. 38
28481040 2017
95
[Clinical manifestation and gene analyses of 15 patients with intellectual disability or developmental delay complicated with congenital nystagmus]. 38
29141312 2017
96
Atypical hemolytic uremic syndrome induced by CblC subtype of methylmalonic academia: A case report and literature review. 38
29068997 2017
97
Diagnosis of cobalamin C deficiency with renal abnormality from onset in a Chinese child by next generation sequencing: A case report. 38
29042959 2017
98
[Pulmonary arterial hypertension as leading manifestation of methylmalonic aciduria: clinical characteristics and gene testing in 15 cases]. 38
29045954 2017
99
Co-occurring Down syndrome and SUCLA2-related mitochondrial depletion syndrome. 38
28749033 2017
100
Quantitative Assessment of Microstructural Changes of the Retina in Infants With Congenital Zika Syndrome. 38
28880978 2017
101
Association between the MVK and MMAB polymorphisms and serum lipid levels. 38
29050287 2017
102
Renal Involvement in Methylmalonic Aciduria. 38
29270502 2017
103
The effect of MVK-MMAB variants, their haplotypes and G×E interactions on serum lipid levels and the risk of coronary heart disease and ischemic stroke. 38
29069827 2017
104
The Relationship between Dietary Intake, Growth, and Body Composition in Inborn Errors of Intermediary Protein Metabolism. 38
28629683 2017
105
Eight novel MUT loss-of-function missense mutations in Chinese patients with isolated methylmalonic academia. 38
28101778 2017
106
Protein destabilization and loss of protein-protein interaction are fundamental mechanisms in cblA-type methylmalonic aciduria. 38
28497574 2017
107
Mutation Analyses in Selected Exons of the MUT Gene in Indian Patients with Methylmalonic Acidemia. 38
28811685 2017
108
Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1. 38
28572511 2017
109
X-Linked Cobalamin Disorder (HCFC1) Mimicking Nonketotic Hyperglycinemia With Increased Both Cerebrospinal Fluid Glycine and Methylmalonic Acid. 38
28363510 2017
110
Renal thrombotic microangiopathy in patients with cblC defect: review of an under-recognized entity. 38
27289364 2017
111
Renal cell carcinoma harboring somatic TSC2 mutations in a child with methylmalonic acidemia. 38
27748010 2017
112
Detection of inborn errors of metabolism utilizing GC-MS urinary metabolomics coupled with a modified orthogonal partial least squares discriminant analysis. 38
28153297 2017
113
Pulmonary artery hypertension in methylmalonic acidemia. 38
27804229 2017
114
Aminoguanidine alleviated MMA-induced impairment of cognitive ability in rats by downregulating oxidative stress and inflammatory reaction. 38
28223158 2017
115
Methylmalonate Induces Inflammatory and Apoptotic Potential: A Link to Glial Activation and Neurological Dysfunction. 38
28395089 2017
116
SUCLG1-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
28358460 2017
117
Combined methylmalonic acidemia and homocysteinemia presenting predominantly with late-onset diffuse lung disease: a case series of four patients. 38
28327205 2017
118
Corrigendum to "Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations." [Mol. Genet. Metab. (Aug 2016); 118(4): 264-71]. 38
28284539 2017
119
Gas chromatography/mass spectrometry-based urine metabolome study in children for inborn errors of metabolism: An Indian experience. 38
27784639 2017
120
Acute Illness Protocol for Organic Acidemias: Methylmalonic Acidemia and Propionic Acidemia. 38
28141776 2017
121
Manic-depressive Psychosis as the Initial Symptom in Adult Siblings with Late-onset Combined Methylmalonic Aciduria and Homocystinemia, Cobalamin C Type. 38
28218226 2017
122
Targeted exome sequencing for the identification of complementation groups in methylmalonic aciduria: A south Indian experience. 38
27591164 2017
123
Methylmalonic Acidemia with Novel MUT Gene Mutations. 38
29158924 2017
124
Parent Coping and the Behavioural and Social Outcomes of Children Diagnosed with Inherited Metabolic Disorders. 38
27008193 2017
125
Newborn Screening Programmes in Europe, Arguments and Efforts Regarding Harmonisation: Focus on Organic Acidurias. 38
27344647 2017
126
Methylmalonic and propionic acidemias: clinical management update. 38
27653704 2016
127
Improvement in the prognosis and development of patients with methylmalonic acidemia after living donor liver transplant. 38
27670840 2016
128
Spectrum of ocular manifestations in cobalamin C and cobalamin A types of methylmalonic acidemia. 38
26979128 2016
129
Deep Brain Stimulation in Rare Inherited Dystonias. 38
27743838 2016
130
Association of KCTD10, MVK, and MMAB polymorphisms with dyslipidemia and coronary heart disease in Han Chinese population. 38
27716295 2016
131
Impaired Health-Related Quality of Life in Children and Families Affected by Methylmalonic Acidemia. 38
26667650 2016
132
[Multisystem damage associated with methylmalonic acidemia in 9 children]. 38
27751230 2016
133
Methylmalonic Acidemia Diagnosis by Laboratory Methods. 38
28070528 2016
134
Reference interval of methylmalonic acid concentrations in dried blood spots of healthy, term newborns to facilitate neonatal screening of vitamin B12 deficiency. 38
27040901 2016
135
Pediatric combined liver-kidney transplantation: a single-center experience of 18 cases. 38
27060059 2016
136
Quantifying MMA by SLE LC-MS/MS: Unexpected challenges in assay development. 38
27208560 2016
137
Ammonium accumulation is a primary effect of 2-methylcitrate exposure in an in vitro model for brain damage in methylmalonic aciduria. 38
27599447 2016
138
Clinical experience with N-carbamylglutamate in a single-centre cohort of patients with propionic and methylmalonic aciduria. 38
27489777 2016
139
Molecular and phenotypic characteristics of seven novel mutations causing branched-chain organic acidurias. 38
26830710 2016
140
Inborn errors of metabolism detectable by tandem mass spectrometry in Egypt: The first newborn screening pilot study. 38
26790708 2016
141
Novel Mouse Models of Methylmalonic Aciduria Recapitulate Phenotypic Traits with a Genetic Dosage Effect. 38
27519416 2016
142
Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges. 38
27544719 2016
143
Qualitative urinary organic acid analysis: 10 years of quality assurance. 38
27146437 2016
144
Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant. 38
27484306 2016
145
Next generation sequencing of patients with mut methylmalonic aciduria: Validation of somatic cell studies and identification of 16 novel mutations. 38
27233228 2016
146
Cobalamin C defect-hemolytic uremic syndrome caused by new mutation in MMACHC. 38
27324188 2016
147
Isolated methylmalonic acidemia: a case report. 38
27492701 2016
148
Molecular Genetic Characterization of 151 Mut-Type Methylmalonic Aciduria Patients and Identification of 41 Novel Mutations in MUT. 38
27167370 2016
149
Metabolic network rewiring of propionate flux compensates vitamin B12 deficiency in C. elegans. 38
27383050 2016
150
Perioperative management of living-donor liver transplantation for methylmalonic acidemia. 38
27221384 2016
151
A neuronal disruption in redox homeostasis elicited by ammonia alters the glycine/glutamate (GABA) cycle and contributes to MMA-induced excitability. 38
26940724 2016
152
Juvenile gout in methylmalonic acidemia. 38
26952825 2016
153
Neutralizing Antibodies Against Adeno-Associated Viral Capsids in Patients with mut Methylmalonic Acidemia. 38
26790480 2016
154
Report - Report on the heterozygosis mutations of c.567dupT, p.(Ile190Tyrfs*13) of MMACHC gene in 1 Child patient with methylmalonic academia. 38
27383490 2016
155
Clinical presentation, gene analysis and outcomes in young patients with early-treated combined methylmalonic acidemia and homocysteinemia (cblC type) in Shandong province, China. 38
26563984 2016
156
[Clinical and laboratory studies on four Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria]. 38
27143079 2016
157
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 1: isolated methylmalonic acidemias. 38
26270765 2016
158
A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency. 38
26270766 2016
159
[Identification of two novel mutations of MUT gene in a Chinese family affected with isolated methylmalonic acidemia]. 38
27060300 2016
160
Development and Validation of a GC-FID Method for Diagnosis of Methylmalonic Acidemia. 38
27536704 2016
161
Long-term clinical outcomes of cochlear implantation in children with symptomatic epilepsy. 38
26857310 2016
162
Succinate-CoA ligase deficiency due to mutations in SUCLA2 and SUCLG1: phenotype and genotype correlations in 71 patients. 38
26475597 2016
163
Isolated methylmalonic acidemia with unusual presentation mimicking diabetic ketoacidosis. 38
26581066 2016
164
Carglumic acid enhances rapid ammonia detoxification in classical organic acidurias with a favourable risk-benefit profile: a retrospective observational study. 38
27030250 2016
165
The proteome of methylmalonic acidemia (MMA): the elucidation of altered pathways in patient livers. 38
26672496 2016
166
Posterior reversible encephalopathy syndrome after kidney transplantation in pediatric recipients: Two cases. 38
26607205 2016
167
Methylmalonic Aciduria: A Treatable Disorder of Which Adult Neurologists Need to Be Aware. 38
30713905 2016
168
Spectrum of Mutations in 60 Saudi Patients with Mut Methylmalonic Acidemia. 38
26615597 2016
169
Methylmalonic acidemia with emergency hypertension. 38
26522662 2016
170
N-Carbamylglutamate Is an Effective Treatment for Acute Neonatal Hyperammonaemia in a Patient with Methylmalonic Aciduria. 38
26907495 2016
171
Identification of a novel deletion in the MMAA gene in two Iranian siblings with vitamin B12-responsive methylmalonic acidemia. 38
28536607 2016
172
Successful Domino Liver Transplantation from a Patient with Methylmalonic Acidemia. 38
26219882 2016
173
A New Approach for Fast Metabolic Diagnostics in CMAMMA. 38
26915364 2016
174
Mass Spectrometry-Based Metabolomic and Proteomic Strategies in Organic Acidemias. 38
27403441 2016
175
Five novel SUCLG1 mutations in three Chinese patients with succinate-CoA ligase deficiency noticed by mild methylmalonic aciduria. 38
26028457 2016
176
Optic neuropathy in methylmalonic acidemia and propionic acidemia. 38
26209586 2016
177
Molecular, biochemical, and structural analysis of a novel mutation in patients with methylmalonyl-CoA mutase deficiency. 38
26449400 2016
178
Structure of Human B12 Trafficking Protein CblD Reveals Molecular Mimicry and Identifies a New Subfamily of Nitro-FMN Reductases. 38
26364851 2015
179
Quantitative acylcarnitine determination by UHPLC-MS/MS--Going beyond tandem MS acylcarnitine "profiles". 38
26458767 2015
180
MMACHC gene mutation in familial hypogonadism with neurological symptoms. 38
26283149 2015
181
A Study on the Humoral and Complement Immune System of Patients with Organic Acidemia. 38
26725562 2015
182
SAXS fingerprints of aldehyde dehydrogenase oligomers. 38
26693506 2015
183
Skin manifestation of methylmalonic acidemia: case report and review of the literature. 38
25058035 2015
184
Analysis of Novel Mutations and Methylmalonyl-CoA Mutase Levels in Thai Patients with Isolated Methylmalonic Acidemia. 38
26370686 2015
185
Medical foods prescribed to treat methylmalonic acidemia linked with adverse outcomes for some patients: Studies explore impact of unbalanced amino acid formulation on growth, brain development. 38
26768187 2015
186
Molecular and biochemical alterations in tubular epithelial cells of patients with isolated methylmalonic aciduria. 38
26420839 2015
187
Cobalamin C Deficiency Shows a Rapidly Progressing Maculopathy With Severe Photoreceptor and Ganglion Cell Loss. 38
26658511 2015
188
Clinical features and MUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia: identification of ten novel allelic variants. 38
26454439 2015
189
Liver transplantation in severe methylmalonic acidemia: The sooner, the better. 38
26362094 2015
190
The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation. 38
25875215 2015
191
Advances in the metabolic profiling of acidic compounds in children's urines achieved by comprehensive two-dimensional gas chromatography. 38
26319306 2015
192
Pediatric combined liver-kidney transplantation: a 2015 update. 38
26270957 2015
193
Heptadecanoylcarnitine (C17) a novel candidate biomarker for newborn screening of propionic and methylmalonic acidemias. 38
26368264 2015
194
[Acute brainstem encephalitis and myelitis in a girl with isolated methylmalonic aciduria due to MUT gene defect]. 38
26483233 2015
195
Identification of 2 novel homozygous mutations in the methylmalonyl-CoA mutase gene in Saudi patients. 38
26318470 2015
196
The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans. 38
25585586 2015
197
[Clinical analysis and follow-up study of cardiavascular system involvement in 10 children with methylmalonic aciduria combined with hyperhomocysteinemia]. 38
26412180 2015
198
Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients. 38
25985870 2015
199
Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA). 38
25959030 2015
200
Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review. 38
25567501 2015
201
Cost-effectiveness of liver transplantation in methylmalonic and propionic acidemias. 38
25990417 2015
202
Anesthesia and organic aciduria: is the use of lactated Ringer's solution absolutely contraindicated? 38
25943188 2015
203
Metabolic annotation of 2-ethylhydracrylic acid. 38
26115894 2015
204
Intermediaries of branched chain amino acid metabolism induce fetal hemoglobin, and repress SOX6 and BCL11A, in definitive erythroid cells. 38
26142333 2015
205
Clinical characteristics of hemolytic uremic syndrome secondary to cobalamin C disorder in Chinese children. 38
26253414 2015
206
Dimethylarginines as biomarkers for the kidney transplant management in methylmalonic aciduria. 38
26194982 2015
207
[Relationship of genotypes with clinical phenotypes and outcomes in children with cobalamin C type combined methylmalonic aciduria and homocystinuria]. 38
26287336 2015
208
Assay for methylmalonyl coenzyme A mutase activity based on determination of succinyl coenzyme A by ultrahigh-performance liquid chromatography tandem mass spectrometry. 38
26018627 2015
209
Methylmalonic Aciduria Secondary to Selective Cobalamin Malabsorption in a Yorkshire Terrier. 38
26083440 2015
210
[Methylmalonic acidemia with macrocytic anemia as a prominent symptom: a case report]. 38
26182288 2015
211
Early Liver Transplantation for Neonatal-Onset Methylmalonic Acidemia. 38
26077484 2015
212
Compartmentation of Metabolism of the C12-, C9-, and C5-n-dicarboxylates in Rat Liver, Investigated by Mass Isotopomer Analysis: ANAPLEROSIS FROM DODECANEDIOATE. 38
26070565 2015
213
Prenatal diagnosis using genetic sequencing and identification of a novel mutation in MMACHC. 38
26149271 2015
214
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism. 38
25689098 2015
215
Treatment of methylmalonic acidemia by liver or combined liver-kidney transplantation. 38
25771389 2015
216
Liver or combined liver-kidney transplantation for patients with isolated methylmalonic acidemia: who and when? 38
25882873 2015
217
Methylmalonic Acidemia. 38
26101005 2015
218
Methylmalonic aciduria cblB type: characterization of two novel mutations and mitochondrial dysfunction studies. 38
24813872 2015
219
Prenatal identification of a novel mutation causing methylmalonic acidemia in a family without proband. 38
26174677 2015
220
Crystal structures of Mycobacterial MeaB and MMAA-like GTPases. 38
25832174 2015
221
Methylmalonic acidemia and diabetic ketoacidosis: An unusual association. 38
25983442 2015
222
Screening of Inherited Metabolic Disorders in Infants with Infantile Spasms. 38
25417060 2015
223
Valproate therapy exacerbating intermediate phenotype of methylmalonic aciduria. 38
26167218 2015
224
Ocular disease in the cobalamin C defect: a review of the literature and a suggested framework for clinical surveillance. 38
25742969 2015
225
[Analysis of MUT gene mutations in a patient with isolated methylmalonic acidemia]. 38
25863090 2015
226
[Combined methylmalonic acidemia and homocystinuria; a case report]. 38
25795986 2015
227
First Chinese case of successful pregnancy with combined methylmalonic aciduria and homocystinuria, cblC type. 38
24974159 2015
228
Early and late complications after liver transplantation for propionic acidemia in children: a two centers study. 38
25683683 2015
229
Mitochondrial encephalomyopathy and retinoblastoma explained by compound heterozygosity of SUCLA2 point mutation and 13q14 deletion. 38
24986829 2015
230
Hutchinson-Gilford progeria syndrome caused by an LMNA mutation: a case report. 38
25556323 2015
231
Hepatoblastoma in a patient with methylmalonic aciduria. 38
25691417 2015
232
Pancytopenia in a patient with methylmalonic acidemia. 38
25927084 2015
233
Detection of inborn errors of metabolism using GC-MS: over 3 years of experience in southern China. 38
25781538 2015
234
Spectrum analysis of common inherited metabolic diseases in Chinese patients screened and diagnosed by tandem mass spectrometry. 38
24797655 2015
235
Methylmalonic acidemia mimicking diabetic ketoacidosis and septic shock in infants. 38
25810618 2015
236
[A Chinese boy with methylmalonic aciduria cblB type and a novel mutation in the MMAB gene]. 38
25760844 2015
237
A novel SUCLA2 mutation in a Portuguese child associated with "mild" methylmalonic aciduria. 38
24659738 2015
238
Mutation analysis of methylmalonyl CoA mutase gene exon 2 in Egyptian families: Identification of 25 novel allelic variants. 38
25750861 2015
239
[Detection of pathogenic mutations for methylmalonic acidemia using new-generation semiconductor targeted sequencing]. 38
25636100 2015
240
Predictors of survival in children with methymalonic acidemia with homocystinuria in Beijing, China: a prospective cohort study. 38
25691178 2015
241
Insights into the molecular mechanisms of methylmalonic acidemia using microarray technology. 38
26309541 2015
242
Metabolism of propionic acid to a novel acyl-coenzyme A thioester by mammalian cell lines and platelets. 38
25424005 2015
243
Diagnosis and clinical features of organic acidemias: A hospital-based study in a single center in Damascus, Syria. 38
26535177 2015
244
[A case of late-onset cobalamin C disease (methylmalonic aciduria and homocystinuria, cobalamin C type)]. 38
25672861 2015
245
Retinal Structure in Cobalamin C Disease: Mechanistic and Therapeutic Implications. 38
24512365 2015
246
Biochemical and Hematologic Manifestations of Gastric Intrinsic Factor (GIF) Deficiency: A Treatable Cause of B12 Deficiency in the Old Order Mennonite Population of Southwestern Ontario. 38
25308559 2015
247
MRI characteristics of globus pallidus infarcts in isolated methylmalonic acidemia. 38
25190203 2015
248
Cobalamin C Disease Missed by Newborn Screening in a Patient with Low Carnitine Level. 38
25772322 2015
249
[Acute encephalopathy induced by vaccination in an infant with methylmalonic aciduria cblA]. 38
25748407 2015
250
An Economic Evaluation of Neonatal Screening for Inborn Errors of Metabolism Using Tandem Mass Spectrometry in Thailand. 38
26258410 2015
251
Whole Exome Sequencing Identifies an Adult-Onset Case of Methylmalonic Aciduria and Homocystinuria Type C (cblC) with Non-Syndromic Bull's Eye Maculopathy. 38
25687216 2015
252
Genetic analysis of four cases of methylmalonic aciduria and homocystinuria, cblC type#. 38
26464686 2015
253
A treatable metabolic cause of encephalopathy: cobalamin C deficiency in an 8-year-old male. 38
25511120 2015
254
Cobalamin C deficiency in an adolescent with altered mental status and anorexia. 38
25367534 2014
255
Eculizumab in neonatal hemolytic uremic syndrome with homozygous factor H deficiency. 38
25149852 2014
256
Functional characterization and categorization of missense mutations that cause methylmalonyl-CoA mutase (MUT) deficiency. 38
25125334 2014
257
Reversible pulmonary arterial hypertension in cobalamin-dependent cobalamin C disease due to a novel mutation in the MMACHC gene. 38
24853097 2014
258
Methylmalonic acidemia: a megamitochondrial disorder affecting the kidney. 38
24865477 2014
259
A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient with mut (0) methylmalonic acidemia. 38
24961826 2014
260
Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy. 38
25398587 2014
261
Mutation analysis and prenatal diagnosis for three families affected by isolated methylmalonic aciduria. 38
25299208 2014
262
Abnormal hepatocellular mitochondria in methylmalonic acidemia. 38
24933007 2014
263
Characterization of functional domains of the cblD (MMADHC) gene product. 38
24722857 2014
264
MicroRNA-9 regulates neural apoptosis in methylmalonic acidemia via targeting BCL2L11. 38
24798023 2014
265
Noninvasive prenatal diagnosis in a fetus at risk for methylmalonic acidemia. 38
24406457 2014
266
[A preliminary study of plasma microRNA levels in children with methylmalonic acidemia]. 38
24927441 2014
267
Disruption of redox homeostasis and brain damage caused in vivo by methylmalonic acid and ammonia in cerebral cortex and striatum of developing rats. 38
24580146 2014
268
Globus pallidus involvement as initial presentation of methylmalonic acidemia. 38
24753033 2014
269
A Primary Study on Down-Regulated miR-9-1 and Its Biological Significances in Methylmalonic Acidemia. 38
24390963 2014
270
Correction of methylmalonic aciduria in vivo using a codon-optimized lentiviral vector. 38
24568291 2014
271
Methylmalonic acid administration induces DNA damage in rat brain and kidney. 38
24532006 2014
272
Imaging findings associated with methylmalonic aciduria. 38
24630290 2014
273
Selective intestinal cobalamin malabsorption with proteinuria (Imerslund-Gräsbeck syndrome) in juvenile Beagles. 38
24433284 2014
274
Prevention of metabolic decompensation in an infant with mutase deficient methylmalonic aciduria undergoing cardiopulmonary bypass. 38
24464670 2014
275
Measurement of succinyl-carnitine and methylmalonyl-carnitine on dried blood spot by liquid chromatography-tandem mass spectrometry. 38
24269713 2014
276
The value of neuroimaging in the assessment and follow-up of early-onset methylmalonic aciduria and homocystinuria. 38
27896075 2014
277
Glutathione metabolism in cobalamin deficiency type C (cblC). 38
23568438 2014
278
A dodecylamine derivative of cyanocobalamin potently inhibits the activities of cobalamin-dependent methylmalonyl-CoA mutase and methionine synthase of Caenorhabditis elegans. 38
25161880 2014
279
[Mental symptoms as the first presentation of late-onset methylmalonic acidemia: report of 3 cases]. 38
24461186 2014
280
Methylmalonic acidemia with homocystinuria. A very rare cause of kidney failure in the neonatal period. 38
25036075 2014
281
Analysis of methylcitrate in dried blood spots by liquid chromatography-tandem mass spectrometry. 38
24997714 2014
282
Usefulness of biochemical parameters in decision-making on the start of emergency treatment in patients with propionic acidemia. 38
23797949 2014
283
Adult-onset eculizumab-resistant hemolytic uremic syndrome associated with cobalamin C deficiency. 38
24210589 2014
284
Disorders associated with abnormal acylcarnitine profile among high risk Egyptian children. 38
25174060 2014
285
A SUCLG1 mutation in a patient with mitochondrial DNA depletion and congenital anomalies. 38
27896121 2014
286
Efficacy and safety of intermittent hemodialysis in infants and young children with inborn errors of metabolism. 38
24013516 2014
287
Long-term visual outcome of methylmalonic aciduria and homocystinuria, cobalamin C type. 38
24126030 2014
288
Methylmalonic acidemia presenting as persistent pulmonary hypertension of the newborn. 38
25322992 2014
289
Clinical, Biochemical, and Molecular Presentation in a Patient with the cblD-Homocystinuria Inborn Error of Cobalamin Metabolism. 38
25155779 2014
290
Renal growth in isolated methylmalonic acidemia. 38
23639900 2013
291
Diagnostic challenges of aminoacidopathies and organic acidemias in a developing country: a twelve-year experience. 38
23994778 2013
292
Clinical features and management of organic acidemias in Japan. 38
24067294 2013
293
Asymptomatic methylmalonic acidemia in a homozygous MUT mutation (p.P86L). 38
24330302 2013
294
Renal involvement in a patient with cobalamin A type (cblA) methylmalonic aciduria: a 42-year follow-up. 38
24095221 2013
295
Neurologic and neurodevelopmental phenotypes in young children with early-treated combined methylmalonic acidemia and homocystinuria, cobalamin C type. 38
23954310 2013
296
Cobalamin C defect: a patient of late-onset type with homozygous p.R132* mutation. 38
24577983 2013
297
Bilateral subthalamic nucleus deep brain stimulation for refractory total body dystonia secondary to metabolic autopallidotomy in a 4-year-old boy with infantile methylmalonic acidemia: case report. 38
23952031 2013
298
[Diagnosis and treatment of isolated methylmalonic acidemia]. 38
24078577 2013
299
Methylmalonic acidemia and kidney transplantation. 38
23793882 2013
300
Autoinhibition and signaling by the switch II motif in the G-protein chaperone of a radical B12 enzyme. 38
23996001 2013
301
Renal transplantation in 4 patients with methylmalonic aciduria: a cell therapy for metabolic disease. 38
23751327 2013
302
Long-term neurological outcome of a cohort of 80 patients with classical organic acidurias. 38
24059531 2013
303
An X-linked cobalamin disorder caused by mutations in transcriptional coregulator HCFC1. 38
24011988 2013
304
Pharmacological chaperones as a potential therapeutic option in methylmalonic aciduria cblB type. 38
23674520 2013
305
Monogenic diseases that can be cured by liver transplantation. 38
23578885 2013
306
Chronic administration of methylmalonate on young rats alters neuroinflammatory markers and spatial memory. 38
23726524 2013
307
Novel c.2216T > C (p.I739T) mutation in exon 13 and c.1481T > A (p.L494X) mutation in exon 8 of MUT gene in a female with methylmalonic acidemia. 38
23479330 2013
308
High resolution melting analysis of the MMAB gene in cblB patients and in those with undiagnosed methylmalonic aciduria. 38
23707710 2013
309
Increased susceptibility of brain acetylcholinesterase activity to methylmalonate in young rats with renal failure. 38
23475280 2013
310
A switch III motif relays signaling between a B12 enzyme and its G-protein chaperone. 38
23873214 2013
311
Clinical and biochemical outcome after hydroxocobalamin dose escalation in a series of patients with cobalamin C deficiency. 38
23746552 2013
312
Targeting proximal tubule mitochondrial dysfunction attenuates the renal disease of methylmalonic acidemia. 38
23898205 2013
313
Mutations in ALDH6A1 encoding methylmalonate semialdehyde dehydrogenase are associated with dysmyelination and transient methylmalonic aciduria. 38
23835272 2013
314
Pregnancy in a methylmalonic acidemia patient with kidney transplantation: a case report. 38
23711287 2013
315
The syndrome of deafness-dystonia: clinical and genetic heterogeneity. 38
23418071 2013
316
Clinical and laboratory findings in border collies with presumed hereditary juvenile cobalamin deficiency. 38
23535754 2013
317
[Peripheral nervous impairment in a patient with methylmalonic aciduria combined with hyperhomocysteinemia]. 38
23591356 2013
318
[Combined methylmalonic aciduria and homocysteinemia with hydrocephalus as an early presentation: a case report]. 38
23607959 2013
319
[Advances in the clinical and laboratory studies on methylmalonic aciduria combined with homocysteinemia type cblC]. 38
23927810 2013
320
Radial microcolumnar cortical architecture: maturational arrest or cortical dysplasia? 38
23498558 2013
321
Affective disorder as the first manifestation of methylmalonic acidemia: a case report. 38
23724196 2013
322
Acute renal failure potentiates methylmalonate-induced oxidative stress in brain and kidney of rats. 38
23297832 2013
323
[Outcomes of patients with combined methylmalonic acidemia and homocystinuria after treatment]. 38
23751581 2013
324
Proteomics of vitamin B12 processing. 38
23241609 2013
325
[Analysis of propionylcarnitine in blood and methylmalonic acid in urine of 162 patients with methylmalonic acidemia]. 38
23663331 2013
326
Children undergoing liver transplantation for treatment of inherited metabolic diseases are prone to higher oxidative stress, complement activity and transforming growth factor-β1. 38
23792503 2013
327
Subcellular location of MMACHC and MMADHC, two human proteins central to intracellular vitamin B(12) metabolism. 38
23270877 2013
328
Isolation and Expression of a cDNA Encoding Methylmalonic Aciduria Type A Protein from Euglena gracilis Z. 38
24957894 2013
329
Methylmalonic acidemia and hyperglycemia: an unusual association. 38
22658817 2013
330
Methylmalonic acidemia: diagnosis and neuroimaging findings of this neurometabolic disorder (an Iranian pediatric case series). 38
24665309 2013
331
Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures. 38
23298464 2013
332
Serum cobalamin and methylmalonic acid concentrations in dogs with chronic gastrointestinal disease. 38
23270350 2013
333
Methylmalonic aciduria: newborn screening in mainland China? 38
23446948 2013
334
Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease. 38
23430797 2013
335
Simple, Fast, and Simultaneous Detection of Plasma Total Homocysteine, Methylmalonic Acid, Methionine, and 2-Methylcitric Acid Using Liquid Chromatography and Mass Spectrometry (LC/MS/MS). 38
23430805 2013
336
Novel Deletion Mutation Identified in a Patient with Late-Onset Combined Methylmalonic Acidemia and Homocystinuria, cblC Type. 38
23580368 2013
337
Defect of cobalamin intracellular metabolism presenting as diabetic ketoacidosis: a rare manifestation. 38
23546813 2013
338
Severe Neonatal Metabolic Decompensation in Methylmalonic Acidemia Caused by CblD Defect. 38
23686626 2013
339
Oxidative stress and apoptosis in homocystinuria patients with genetic remethylation defects. 38
22887477 2013
340
[Expanded newborn screening in the Region of Murcia, Spain. Three-years experience]. 38
22137990 2012
341
Late onset of symptoms in an atypical patient with the cblJ inborn error of vitamin B12 metabolism: diagnosis and novel mutation revealed by exome sequencing. 38
23141461 2012
342
Structural features of recombinant MMADHC isoforms and their interactions with MMACHC, proteins of mammalian vitamin B12 metabolism. 38
22832074 2012
343
Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA). 38
23046887 2012
344
High resolution melting analysis of the MMAA gene in patients with cblA and in those with undiagnosed methylmalonic aciduria. 38
23026888 2012
345
The methylmalonic aciduria related genes, Mmaa, Mmab, and Mut, are broadly expressed in placental and embryonic tissues during mouse organogenesis. 38
23022071 2012
346
Treatment of a methylmalonyl-CoA mutase stopcodon mutation. 38
23041189 2012
347
Fetal progenitor cell transplantation treats methylmalonic aciduria in a mouse model. 38
22982631 2012
348
The implementation of neonatal peritoneal dialysis in a clinical setting. 38
22420616 2012
349
Methylmalonic acidemia mimicking diabetic ketoacidosis in an infant. 38
21545677 2012
350
Novel mutation in an Indian patient with Methylmalonic Acidemia, cblA type. 38
23716945 2012
351
Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative? 38
22249333 2012
352
Neonatal atypical hemolytic uremic syndrome due to methylmalonic aciduria and homocystinuria. 38
22447314 2012
353
Ocular manifestations of cobalamin C type methylmalonic aciduria with homocystinuria. 38
22929452 2012
354
Serum cobalamin, urine methylmalonic acid, and plasma total homocysteine concentrations in Border Collies and dogs of other breeds. 38
22849680 2012
355
Microarray based mutational analysis of patients with methylmalonic acidemia: identification of 10 novel mutations. 38
22727635 2012
356
Clinical and molecular findings in Thai patients with isolated methylmalonic acidemia. 38
22695176 2012
357
Extracorporeal membrane oxygenation support of a severe metabolic crisis in a child with methylmalonic acidemia. 38
22711065 2012
358
A clinical and gene analysis of late-onset combined methylmalonic aciduria and homocystinuria, cblC type, in China. 38
22560872 2012
359
[Abnormal findings during newborn period of 160 patients with early-onset methylmalonic aciduria]. 38
22931934 2012
360
Neurocognitive phenotype of isolated methylmalonic acidemia. 38
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361
Methylmalonate impairs mitochondrial respiration supported by NADH-linked substrates: involvement of mitochondrial glutamate metabolism. 38
22488725 2012
362
Role of vitamin B12 on methylmalonyl-CoA mutase activity. 38
22661206 2012
363
Acute life-threatening arrhythmias caused by severe hyperkalemia after induction of anesthesia in an infant with methylmalonic acidemia. 38
22632992 2012
364
[Mutation analysis of the methylmalonyl-CoA mutase gene in ten Mexican patients with methylmalonic acidemia]. 38
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365
A series of pregnancies in women with inherited metabolic disease. 38
21918856 2012
366
[Clinical analysis of organic acidemia in neonates from neonatal intensive care units]. 38
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367
Impact of inborn errors of metabolism on admission in a neonatal intensive care unit--a prospective cohort study. 38
21660401 2012
368
Gene therapy in a murine model of methylmalonic acidemia using rAAV9-mediated gene delivery. 38
21776024 2012
369
Molecular mechanisms leading to three different phenotypes in the cblD defect of intracellular cobalamin metabolism. 38
22156578 2012
370
Aminoacidopathies and organic acidurias in Tunisia: a retrospective survey over 23 years. 38
22481200 2012
371
Fatty acid desaturase 1 polymorphisms are associated with coronary heart disease in a Chinese population. 38
22490578 2012
372
[Skin lesions induced by malnutrition in an infant with methylmalonic aciduria and homocysteic acidemia]. 38
22433417 2012
373
Methylmalonic acidemia and hyperglycemia: an unusual association. 38
21802231 2012
374
Index of suspicion. Case 1: Lymphadenopathy, prolonged hematuria, proteinuria, and weight loss in a teenage boy. Case 2: Red, Swollen, painful eye in a 12-year-old boy with methylmalonic acidemia. Case 3: Ptosis and diplopia after a respiratory infection in a 7-year-old girl. 38
22301036 2012
375
Targeted metabolomic analysis of plasma samples for the diagnosis of inherited metabolic disorders. 38
22018716 2012
376
Secondary hemophagocytosis in 3 patients with organic acidemia involving propionate metabolism. 38
21970506 2012
377
Combined methylmalonic acidemia and homocystinuria, cblC type. II. Complications, pathophysiology, and outcomes. 38
21748408 2012
378
Combined methylmalonic acidemia and homocystinuria, cblC type. I. Clinical presentations, diagnosis and management. 38
21748409 2012
379
Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects. 38
21290185 2012
380
Atypical imaging findings in the setting of methylmalonic acidemia in an infant. 38
27330598 2012
381
Mutation Profile of the MUT Gene in Chinese Methylmalonic Aciduria Patients. 38
23430940 2012
382
Mouse models for methylmalonic aciduria. 38
22792386 2012
383
Short-term outcome of propionic aciduria treated at presentation with N-carbamylglutamate: a retrospective review of four patients. 38
23430860 2012
384
Development of transgenic mice containing an introduced stop codon on the human methylmalonyl-CoA mutase locus. 38
23024777 2012
385
Expression of proinflammatory factors in renal cortex induced by methylmalonic acid. 38
22583396 2012
386
Subacute bilateral visual loss in methylmalonic acidemia. 38
21873889 2011
387
Neonatal lactic acidosis with methylmalonic aciduria due to novel mutations in the SUCLG1 gene. 38
21639866 2011
388
Cardiac disease in methylmalonic acidemia. 38
21784454 2011
389
Methylmalonic acidemia in mainland China. 38
21912104 2011
390
Preoperative dialysis for liver transplantation in methylmalonic acidemia. 38
21974703 2011
391
Diagnosis of major organic acidurias in children: two years experience at a tertiary care centre. 38
23024469 2011
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Epilepsy in children with methylmalonic acidemia: electroclinical features and prognosis. 38
21764232 2011
393
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype. 38
21785126 2011
394
Intact recovery from early 'acquired methylmalonic aciduria' secondary to maternal atrophic gastritis. 38
21352365 2011
395
Structural basis of multifunctionality in a vitamin B12-processing enzyme. 38
21697092 2011
396
Exome sequencing identifies ACSF3 as a cause of combined malonic and methylmalonic aciduria. 38
21841779 2011
397
Combined methylmalonic aciduria and homocystinuria cblC type of a Taiwanese infant with c.609G>A and C.567dupT mutations in the MMACHC gene. 38
21835369 2011
398
The MMACHC proteome: hallmarks of functional cobalamin deficiency in humans. 38
21497120 2011
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Experimental evidence that methylmalonic acid provokes oxidative damage and compromises antioxidant defenses in nerve terminal and striatum of young rats. 38
21424830 2011
400
Cobalamin C defect presenting as severe neonatal hyperammonemia. 38
21153419 2011
401
The screening of inborn errors of metabolism in sick Chinese infants by tandem mass spectrometry and gas chromatography/mass spectrometry. 38
21463612 2011
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Urinary 2-hydroxy-5-oxoproline, the lactam form of α-ketoglutaramate, is markedly increased in urea cycle disorders. 38
21298421 2011
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Prenatal diagnosis of methylmalonic aciduria by measuring methylmalonic acid in dried amniotic fluid on filter paper using gas chromatography-mass spectrometry. 38
21360031 2011
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Clinical characteristics and gene mutation analysis of methylmalonic aciduria. 38
21671183 2011
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Loss of allostery and coenzyme B12 delivery by a pathogenic mutation in adenosyltransferase. 38
21604717 2011
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[Selective screening of inborn errors of metabolism by using the tandem mass spectrometry: pilot study of 552 children at high risk]. 38
21507298 2011
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Association of methylmalonic acidemia and erythema nodosum. 38
23365484 2011
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Refractory focal epilepsy in a patient with methylmalonic aciduria: case report on positive and long-lasting effect of rufinamide. 38
21547865 2011
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Mitochondrial energy metabolism in neurodegeneration associated with methylmalonic acidemia. 38
21271280 2011
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Chronic pancreatitis in branched-chain organic acidurias--a case of methylmalonic aciduria and an overview of the literature. 38
20924605 2011
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Inborn errors of cobalamin absorption and metabolism. 38
21312325 2011
412
Isolated remethylation disorders: do our treatments benefit patients? 38
20490923 2011
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Variable dietary management of methylmalonic acidemia: metabolic and energetic correlations. 38
21048060 2011
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Determination of the spectrum of low molecular mass organic acids in urine by capillary electrophoresis with contactless conductivity and ultraviolet photometric detection--an efficient tool for monitoring of inborn metabolic disorders. 38
21168555 2011
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Optic neuropathy in methylmalonic acidemia: the role of neuroprotection. 38
20449661 2010
416
Treatment of cobalamin C (cblC) deficiency during pregnancy. 38
20830523 2010
417
Clinical, biochemical, and molecular analysis of combined methylmalonic acidemia and hyperhomocysteinemia (cblC type) in China. 38
20924684 2010
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Structures of the human GTPase MMAA and vitamin B12-dependent methylmalonyl-CoA mutase and insight into their complex formation. 38
20876572 2010
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Clinical presentation and metabolic consequences in 40 breastfed infants with nutritional vitamin B12 deficiency--what have we learned? 38
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Different altered pattern expression of genes related to apoptosis in isolated methylmalonic aciduria cblB type and combined with homocystinuria cblC type. 38
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Methylmalonic aciduria and homocystinuria-associated maculopathy. 38
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Quiz page November 2010: a young woman with metabolic acidosis, hyperammonemia, and visual disturbance. Methylmalonic acidemia complicated with toxic amblyopia. 38
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Useful second-tier tests in expanded newborn screening of isovaleric acidemia and methylmalonic aciduria. 38
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The molecular landscape of propionic acidemia and methylmalonic aciduria in Latin America. 38
20549364 2010
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The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein. 38
20693550 2010
426
Functional and structural analysis of five mutations identified in methylmalonic aciduria cblB type. 38
20556797 2010
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Mutation spectrum of MMACHC in Chinese patients with combined methylmalonic aciduria and homocystinuria. 38
20631720 2010
428
Liver-directed recombinant adeno-associated viral gene delivery rescues a lethal mouse model of methylmalonic acidemia and provides long-term phenotypic correction. 38
20486773 2010
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Prevention by L-carnitine of DNA damage induced by propionic and L-methylmalonic acids in human peripheral leukocytes in vitro. 38
20659584 2010
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Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy. 38
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Positive newborn screen for methylmalonic aciduria identifies the first mutation in TCblR/CD320, the gene for cellular uptake of transcobalamin-bound vitamin B(12). 38
20524213 2010
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Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia. 38
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A multi-voting enhancement for newborn screening healthcare information system. 38
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Incidence and patterns of inborn errors of metabolism in the Eastern Province of Saudi Arabia, 1983-2008. 38
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Newborn screening for methylmalonic aciduria by tandem mass spectrometry: 7 years' experience from two centers in Taiwan. 38
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Increase in urinary purines and pyrimidines in patients with methylmalonic aciduria combined with homocystinuria. 38
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Marked mitochondrial DNA depletion associated with a novel SUCLG1 gene mutation resulting in lethal neonatal acidosis, multi-organ failure, and interrupted aortic arch. 38
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New SUCLG1 patients expanding the phenotypic spectrum of this rare cause of mild methylmalonic aciduria. 38
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[Analysis of clinical features and gene mutations in two Chinese pedigrees with late-onset methylmalonic acidemia, cblC type]. 38
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Liquid chromatography-tandem mass spectrometry for analysis of acylcarnitines in dried blood specimens collected at autopsy from neonatal intensive care unit. 38
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Glutaric aciduria type I and methylmalonic aciduria: simulation of cerebral import and export of accumulating neurotoxic dicarboxylic acids in in vitro models of the blood-brain barrier and the choroid plexus. 38
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Thermolability of mutant MMACHC protein in the vitamin B12-responsive cblC disorder. 38
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Allelic expression imbalance at high-density lipoprotein cholesterol locus MMAB-MVK. 38
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Stabilization of blood methylmalonic acid level in methylmalonic acidemia after liver transplantation. 38
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Simplified method for the chemical diagnosis of organic aciduria using GC/MS. 38
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Methylmalonic aciduria presenting with recurrent multiple molluscum contagiosum lesions. 38
21547100 2010
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Oral and craniofacial findings in a patient with methylmalonic aciduria and homocystinuria: review and a case report. 38
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Perspectives on dietary adherence among women with inborn errors of metabolism. 38
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Newborn screening and early biochemical follow-up in combined methylmalonic aciduria and homocystinuria, cblC type, and utility of methionine as a secondary screening analyte. 38
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A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria. 38
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Gestational age-related reference values for amniotic fluid organic acids. 38
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N-carbamylglutamate in emergency management of hyperammonemia in neonatal acute onset propionic and methylmalonic aciduria. 38
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Long-term rescue of a lethal murine model of methylmalonic acidemia using adeno-associated viral gene therapy. 38
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[Neonatal diabetes: a case of pancreatic beta cell agenesis and a 38-year follow-up of a permanent neonatal diabetes mellitus]. 38
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Management of West syndrome in a patient with methylmalonic aciduria. 38
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Quantitation of methylmalonic acid in serum or plasma using isotope dilution-selected ion gas chromatography-mass spectrometry. 38
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Teaching NeuroImages: MRI in methylmalonic acidemia. 38
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Mechanism of vitamin B12-responsiveness in cblC methylmalonic aciduria with homocystinuria. 38
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Pseudoexon exclusion by antisense therapy in methylmalonic aciduria (MMAuria). 38
19862841 2009
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A G-protein editor gates coenzyme B12 loading and is corrupted in methylmalonic aciduria. 38
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High prevalence of structural heart disease in children with cblC-type methylmalonic aciduria and homocystinuria. 38
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Asymptomatic maternal combined homocystinuria and methylmalonic aciduria (cblC) detected through low carnitine levels on newborn screening. 38
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Long-term exposure of human proximal tubule cells to hydroxycobalamin[c-lactam] as a possible model to study renal disease in methylmalonic acidurias. 38
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Infantile encephalopathy due to vitamin deficiency in industrial countries. 38
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Genetic and cellular studies of oxidative stress in methylmalonic aciduria (MMA) cobalamin deficiency type C (cblC) with homocystinuria (MMACHC). 38
19760748 2009
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Ligand-binding by catalytically inactive mutants of the cblB complementation group defective in human ATP:cob(I)alamin adenosyltransferase. 38
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[Analysis of the MUT gene mutations in patients with methylmalonic acidemia]. 38
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Metabolic and hemodynamic advantages of an acetate-free citrate dialysate in a uremic case of congenital methylmalonic acidemia. 38
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Growth hormone therapy in neonatal patients with methylmalonic acidemia. 38
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Coenzyme Q(10) is decreased in fibroblasts of patients with methylmalonic aciduria but not in mevalonic aciduria. 38
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Stop codon read-through of a methylmalonic aciduria mutation. 38
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Spectrum of mutations in MMACHC, allelic expression, and evidence for genotype-phenotype correlations. 38
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Multiple OXPHOS deficiency in the liver, kidney, heart, and skeletal muscle of patients with methylmalonic aciduria and propionic aciduria. 38
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Resolution of cor pulmonale after medical management in a patient with cblC-type methylmalonic aciduria and homocystinuria: a case report. 38
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Long-term outcome in methylmalonic aciduria: a series of 30 French patients. 38
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Relationships between low serum cobalamin concentrations and methlymalonic acidemia in cats. 38
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Late onset optic neuropathy in methylmalonic and propionic acidemia. 38
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SUCLA2-Related Mitochondrial DNA Depletion Syndrome, Encephalomyopathic Form with Methylmalonic Aciduria 38
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Mitochondrial dysfunction in mut methylmalonic acidemia. 38
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Clinical and molecular heterogeneity in patients with the cblD inborn error of cobalamin metabolism. 38
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Spondylocostal dysostosis associated with methylmalonic aciduria. 38
19371216 2009
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Multiple OXPHOS deficiency in the liver of a patient with CblA methylmalonic aciduria sensitive to vitamin B(12). 38
19277894 2009
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Methylmalonate-induced seizures are attenuated in inducible nitric oxide synthase knockout mice. 38
19073247 2009
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Vitamin B12 status, methylmalonic acidemia, and bacterial overgrowth in short bowel syndrome. 38
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Enamel defects and salivary methylmalonate in methylmalonic acidemia. 38
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Fractional anisotropy for assessment of white matter tracts injury in methylmalonic acidemia. 38
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Creatine metabolism in combined methylmalonic aciduria and homocystinuria disease revisited. 38
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Gene induction for the treatment of methylmalonic aciduria. 38
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Fetal dilated cardiomyopathy: an unsuspected presentation of methylmalonic aciduria and hyperhomocystinuria, cblC type. 38
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[Analysis of gene mutations in Chinese patients with methylmalonic acidemia and homocysteinemia]. 38
19573432 2009
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Acrodermatitis enteropathica-like eruption in metabolic disorders: acrodermatitis dysmetabolica is proposed as a better term. 38
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Selective screening for organic acidemias by urine organic acid GC-MS analysis in Brazil: fifteen-year experience. 38
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[Mutation analysis of the MMACHC gene in a pedigree with methylmalonic aciduria]. 38
19199254 2009
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Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy. 38
19015156 2009
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Progress in expanded newborn screening for metabolic conditions by LC-MS/MS in Tuscany: update on methods to reduce false tests. 38
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Ocular phenotype in patients with methylmalonic aciduria and homocystinuria, cobalamin C type. 38
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Newborn screening in Japan: restructuring for the new era. 38
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Qualitative urinary organic acid analysis: methodological approaches and performance. 38
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Outcome of organic acidurias in China. 38
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Inherited metabolic disorders and cerebral infarction. 38
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Brain damage by mild metabolic derangements in methylmalonic acidemia. 38
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[Radiological findings in methylmalonic acidemia]. 38
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Methylmalonic acidemia: brain imaging findings in 52 children and a review of the literature. 38
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[A clinical analysis of methylmalonic acidemia in adolescents]. 38
19080141 2008
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Kocuria rhizophila adds to the emerging spectrum of micrococcal species involved in human infections. 38
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Liver hepatoblastoma and multiple OXPHOS deficiency in the follow-up of a patient with methylmalonic aciduria. 38
18676166 2008
507
Urinary organic metabolite screening of children with influenza-associated encephalopathy for inborn errors of metabolism using GC/MS. 38
18262742 2008
508
Delay of renal progression in methylmalonic acidemia using angiotensin II inhibition: a case report. 38
18949737 2008
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N-carbamylglutamate markedly enhances ureagenesis in N-acetylglutamate deficiency and propionic acidemia as measured by isotopic incorporation and blood biomarkers. 38
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[Diagnosis of inborn errors of metabolism using tandem mass spectrometry and gas chromatography mass spectrometry]. 38
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[Report of a case with methylmalonic acidemia]. 38
19099824 2008
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Methylmalonic aciduria: current faces of a "classical" organic aciduria. 38
18563631 2008
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Organic acid disorders detected by urine organic acid analysis: twelve cases in Thailand over three-year experience. 38
18339316 2008
514
Diagnostic work-up and management of patients with isolated methylmalonic acidurias in European metabolic centres. 38
18563634 2008
515
Neonatal vitamin B12 deficiency secondary to maternal subclinical pernicious anemia: identification by expanded newborn screening. 38
18410783 2008
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Selective screening for inborn errors of metabolism and secondary methylmalonic aciduria in pregnancy at high risk district of neural tube defects: a human metabolome study by GC-MS in China. 38
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517
Retinal dysfunction in combined methylmalonic aciduria and homocystinuria (Cblc) disease: a spectrum of disorders. 38
18454408 2008
518
Structural characterization of a human-type corrinoid adenosyltransferase confirms that coenzyme B12 is synthesized through a four-coordinate intermediate. 38
18452306 2008
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Spectrum of MMACHC mutations in Italian and Portuguese patients with combined methylmalonic aciduria and homocystinuria, cblC type. 38
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Gene identification for the cblD defect of vitamin B12 metabolism. 38
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[Combined use of tandem mass spectrometry with urine gas chromatography/mass spectrometry is useful for diagnosis of inborn errors of metabolism in children]. 38
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522
Prenatal diagnosis of methylmalonic aciduria by analysis of organic acids and total homocysteine in amniotic fluid. 38
18298912 2008
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Neurodegeneration and chronic renal failure in methylmalonic aciduria--a pathophysiological approach. 38
17846917 2008
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Methylmalonic aciduria articles. 38
18196472 2008
525
Combined liver-kidney transplant for the management of methylmalonic aciduria: a case report and review of the literature. 38
17964841 2008
526
Carglumic acid: an additional therapy in the treatment of organic acidurias with hyperammonemia? 38
18234091 2008
527
Adenovirus-mediated gene delivery rescues a neonatal lethal murine model of mut(0) methylmalonic acidemia. 38
18052792 2008
528
Efficacy of living donor liver transplantation for patients with methylmalonic acidemia. 38
17908273 2007
529
Propionic and methylmalonic acidemia: antisense therapeutics for intronic variations causing aberrantly spliced messenger RNA. 38
17966092 2007
530
Metabolomics identifies perturbations in human disorders of propionate metabolism. 38
17951291 2007
531
[Values of tandem mass spectrometry in etiologic diagnosis of cerebral developmental retardation]. 38
18339284 2007
532
Structural and functional analyses of the human-type corrinoid adenosyltransferase (PduO) from Lactobacillus reuteri. 38
17988155 2007
533
[A rare inborn error of intracellular processing of cobalamine presenting with microcephalus and megaloblastic anemia: a report of 3 children]. 38
18050048 2007
534
Atypical methylmalonic aciduria: frequency of mutations in the methylmalonyl CoA epimerase gene (MCEE). 38
17823972 2007
535
Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle. 38
17937813 2007
536
Crystal structure and mutagenesis of the metallochaperone MeaB: insight into the causes of methylmalonic aciduria. 38
17728257 2007
537
Late-onset combined homocystinuria and methylmalonic aciduria (cblC) and neuropsychiatric disturbance. 38
17853453 2007
538
Marfanoid features in a child with combined methylmalonic aciduria and homocystinuria (CblC type). 38
17768669 2007
539
Heart failure in a patient with methylmalonic acidemia. 38
17591451 2007
540
Renal transplant in methylmalonic acidemia: could it be the best option? Report on a case at 10 years and review of the literature. 38
17401587 2007
541
Quebec neonatal mass urinary screening programme: from micromolecules to macromolecules. 38
17570073 2007
542
Methylmalonic acidemia presenting with an ichthyosis vulgaris-like aspect. 38
17845195 2007
543
[Clinical studies on fifty-seven Chinese patients with combined methylmalonic aciduria and homocysteinemia]. 38
17953808 2007
544
Rapid 2nd-tier test for measurement of 3-OH-propionic and methylmalonic acids on dried blood spots: reducing the false-positive rate for propionylcarnitine during expanded newborn screening by liquid chromatography-tandem mass spectrometry. 38
17510301 2007
545
Characterisation of the 1H and 13C NMR spectra of methylcitric acid. 38
16997619 2007
546
Convulsions induced by methylmalonic acid are associated with glutamic acid decarboxylase inhibition in rats: a role for GABA in the seizures presented by methylmalonic acidemic patients? 38
17467181 2007
547
In vivo expression of human ATP:cob(I)alamin adenosyltransferase (ATR) using recombinant adeno-associated virus (rAAV) serotypes 2 and 8. 38
17471589 2007
548
Novel mutations found in two genes of thai patients with isolated methylmalonic acidemia. 38
17410422 2007
549
CE assay of methylmalonyl-coenzyme-a mutase activity. 38
17516582 2007
550
Novel mutation of methylmalonyl-CoA mutase gene causing the mut0 form of methylmalonic acidemia in a Japanese girl. 38
17445044 2007
551
Adenoviral-mediated correction of methylmalonyl-CoA mutase deficiency in murine fibroblasts and human hepatocytes. 38
17470278 2007
552
Regulation by SREBP-2 defines a potential link between isoprenoid and adenosylcobalamin metabolism. 38
17300749 2007
553
[Twin cases with methylmalonic aciduria and homocysteinemia]. 38
17706077 2007
554
1H NMR spectra of methylcitric acid in urine. 38
17295121 2007
555
Mutation and biochemical analysis of 19 probands with mut0 and 13 with mut- methylmalonic aciduria: identification of seven novel mutations. 38
17113806 2007
556
SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness. 38
17301081 2007
557
[Diagnosis and treatment of methylmalonic aciduria: a case report]. 38
17432548 2007
558
Mitochondrial vitamin B12-binding proteins in patients with inborn errors of cobalamin metabolism. 38
17011224 2007
559
[Methylmalonic acidemia in a neonate]. 38
17456347 2007
560
Simultaneous quantification of acylcarnitine isomers containing dicarboxylic acylcarnitines in human serum and urine by high-performance liquid chromatography/electrospray ionization tandem mass spectrometry. 38
17279485 2007
561
Methylene blue prevents methylmalonate-induced seizures and oxidative damage in rat striatum. 38
16963161 2007
562
Mutation and haplotype analyses of the MUT gene in Japanese patients with methylmalonic acidemia. 38
17075691 2007
563
DNA-based diagnosis of methylmalonic aciduria and homocystinuria, cblC type in a Chinese patient presenting with mild developmental delay. 38
16963011 2007
564
Continuous hemodiafiltration in the treatment of hyperammonemia due to methylmalonic acidemia. 38
17763173 2007
565
Principal component analysis of urine metabolites detected by NMR and DESI-MS in patients with inborn errors of metabolism. 38
16821030 2007
566
Structural characterization of the active site of the PduO-type ATP:Co(I)rrinoid adenosyltransferase from Lactobacillus reuteri. 38
17121823 2007
567
Current role of liver transplantation for methylmalonic acidemia: a review of the literature. 38
17096763 2006
568
Clinical and biochemical studies on Chinese patients with methylmalonic aciduria. 38
17156691 2006
569
Structure of ATP-bound human ATP:cobalamin adenosyltransferase. 38
17176040 2006
570
Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism. 38
16843692 2006
571
Diazoxide protects against methylmalonate-induced neuronal toxicity. 38
16740260 2006
572
Sepiapterin reductase deficiency an autosomal recessive DOPA-responsive dystonia. 38
16650784 2006
573
Combined methylmalonic aciduria and homocystinuria (cblC): phenotype-genotype correlations and ethnic-specific observations. 38
16714133 2006
574
Homozygous nonsense mutation in the MCEE gene and siRNA suppression of methylmalonyl-CoA epimerase expression: a novel cause of mild methylmalonic aciduria. 38
16697227 2006
575
Oral pharmacologic doses of cobalamin may not be as effective as parenteral cobalamin therapy in reversing hyperhomocystinemia and methylmalonic acidemia in apparently normal subjects. 38
16898970 2006
576
Assembly and protection of the radical enzyme, methylmalonyl-CoA mutase, by its chaperone. 38
16866376 2006
577
A homozygous nonsense mutation in the methylmalonyl-CoA epimerase gene (MCEE) results in mild methylmalonic aciduria. 38
16752391 2006
578
Hyperkalemia after acute metabolic decompensation in two children with vitamin B12-unresponsive methylmalonic acidemia and normal renal function. 38
16878438 2006
579
Quantitative analysis of mitochondrial protein expression in methylmalonic acidemia by two-dimensional difference gel electrophoresis. 38
16823967 2006
580
Intraventricular baclofen infusion for dystonia. Report of two cases. 38
16871874 2006
581
[A case report of methylmalonic acidemia]. 38
16787606 2006
582
Abnormal increase in the expression level of proliferating cell nuclear antigen (PCNA) in the liver and hepatic injury in rats with dietary cobalamin deficiency. 38
16967760 2006
583
Energetics of interaction between the G-protein chaperone, MeaB, and B12-dependent methylmalonyl-CoA mutase. 38
16641088 2006
584
Creatine prevents behavioral alterations caused by methylmalonic acid administration into the hippocampus of rats in the open field task. 38
16457851 2006
585
Gene discovery in methylmalonic aciduria and homocystinuria. 38
16650077 2006
586
Methylmalonic and propionic aciduria. 38
16602092 2006
587
'Classical' organic acidurias, propionic aciduria, methylmalonic aciduria and isovaleric aciduria: long-term outcome and effects of expanded newborn screening using tandem mass spectrometry. 38
16763906 2006
588
Lactate dehydrogenase activity is inhibited by methylmalonate in vitro. 38
16758363 2006
589
Impact of cblB mutations on the function of ATP:cob(I)alamin adenosyltransferase in disorders of vitamin B12 metabolism. 38
16439175 2006
590
Mutation and biochemical analysis of patients belonging to the cblB complementation class of vitamin B12-dependent methylmalonic aciduria. 38
16410054 2006
591
Biomarker discovery, disease classification, and similarity query processing on high-throughput MS/MS data of inborn errors of metabolism. 38
16314408 2006
592
Differential inhibitory effects of methylmalonic acid on respiratory chain complex activities in rat tissues. 38
16324816 2006
593
Three novel and six common mutations in 11 patients with methylmalonic acidemia. 38
16490061 2006
594
Neuropathology of methylmalonic acidemia in a child. 38
16458832 2006
595
Spectrum of mutations in mut methylmalonic acidemia and identification of a common Hispanic mutation and haplotype. 38
16281286 2006
596
Genetic and biochemical approach to early prenatal diagnosis in a family with mut methylmalonic aciduria. 38
16451139 2006
597
Identification of the gene responsible for methylmalonic aciduria and homocystinuria, cblC type. 38
16311595 2006
598
Determination of methylmalonic acid in urine by HPLC with intramolecular excimer-forming fluorescence derivatization. 38
15966058 2006
599
MRI and 1H-MRS findings in early-onset cobalamin C/D defect. 38
16429376 2005
600
[Lorentz Eldjarn--a catalyst for chemistry in Norwegian medicine]. 38
16357903 2005
601
Cobalamin C disease presenting with hemophagocytic lymphohistiocytosis. 38
16251179 2005
602
Answer to hypotonia: a simple hemogram. 38
16417868 2005
603
[Peculiarities of epileptic syndrome in children with metabolic disorders of nervous system]. 38
16369068 2005
604
[Renal impairment in patients with methylmalonic aciduria: a review of five cases]. 38
16316525 2005
605
Gas chromatographic-mass spectrometric urinary metabolome analysis to study mutations of inborn errors of metabolism. 38
15376278 2005
606
Living donor liver transplantation for pediatric patients with inheritable metabolic disorders. 38
16212637 2005
607
Prenatal and postnatal treatment in cobalamin C defect. 38
16227032 2005
608
Prenatal diagnosis for methylmalonic acidemia and inborn errors of vitamin B12 metabolism and transport. 38
16150626 2005
609
Living donor liver transplantation for noncirrhotic inheritable metabolic liver diseases: impact of the use of heterozygous donors. 38
16177636 2005
610
Liver transplantation for inborn errors of metabolism. 38
16286891 2005
611
Genetic and genomic systems to study methylmalonic acidemia. 38
16182581 2005
612
Viral infections and prolonged fever after liver transplantation in young children with inborn errors of metabolism. 38
16276436 2005
613
Impaired energy metabolism and abnormal muscle histology in mut- methylmalonic aciduria. 38
16186538 2005
614
Maculopathy and retinal degeneration in cobalamin C methylmalonic aciduria and homocystinuria. 38
16087854 2005
615
Gene symbol: MUT. Disease: Methylmalonic aciduria. 38
16156030 2005
616
Hyperammonaemic encephalopathy secondary to selective cobalamin deficiency in a juvenile Border collie. 38
16035451 2005
617
Simultaneous retention index analysis of urinary amino acids and carboxylic acids for graphic recognition of abnormal state. 38
15894518 2005
618
Assessment of visual function in children with methylmalonic aciduria and homocystinuria. 38
15944903 2005
619
[Application of tandem mass spectrometry in diagnosis of organic acidemias]. 38
15924743 2005
620
[Encephalopathy with methylmalonic aciduria and homocystinuria secondary to a deficient exogenous supply of vitamin B12]. 38
15926134 2005
621
Methylmalonic acidemia (MMA). 38
15959932 2005
622
Creatine metabolism in combined methylmalonic aciduria and homocystinuria. 38
15786446 2005
623
Genetic analysis of three genes causing isolated methylmalonic acidemia: identification of 21 novel allelic variants. 38
15781192 2005
624
Mutation analysis of the MCM gene in Korean patients with MMA. 38
15781199 2005
625
Molecular basis of methylmalonyl-CoA mutase apoenzyme defect in 40 European patients affected by mut(o) and mut- forms of methylmalonic acidemia: identification of 29 novel mutations in the MUT gene. 38
15643616 2005
626
Magnetic resonance imaging and diffusion-weighted imaging in methylmalonic acidemia. 38
15841747 2005
627
Diagnosis of methylmalonic acidemia from dried blood spots by HPLC and intramolecular-excimer fluorescence derivatization. 38
15514093 2005
628
Methylmalonic aciduria: follow-up and enzymology on the original case after 36 years. 38
16435224 2005
629
Methylmalonic and propionic acidaemias: management and outcome. 38
15868474 2005
630
Clinical onset and prognosis of Asian children with organic acidemias, as detected by analysis of urinary organic acids using GC/MS, instead of mass screening. 38
15626540 2005
631
Mutations in the MMAA gene in patients with the cblA disorder of vitamin B12 metabolism. 38
15523652 2004
632
Human ATP:Cob(I)alamin adenosyltransferase and its interaction with methionine synthase reductase. 38
15347655 2004
633
The cblD defect causes either isolated or combined deficiency of methylcobalamin and adenosylcobalamin synthesis. 38
15292234 2004
634
Reversible end-stage renal disease in an adolescent patient with methylmalonic aciduria. 38
15258847 2004
635
Pathophysiology, diagnosis, and treatment of methylmalonic aciduria-recent advances and new challenges. 38
15293040 2004
636
Inhibition of mitochondrial creatine kinase activity from rat cerebral cortex by methylmalonic acid. 38
15234108 2004
637
Successful dialysis in a boy with methylmalonic acidemia. 38
14986089 2004
638
Mutation analysis of the MMAA and MMAB genes in Japanese patients with vitamin B(12)-responsive methylmalonic acidemia: identification of a prevalent MMAA mutation. 38
15308131 2004
639
[Diagnosis and treatment of methylmalonic acidemia in 14 cases]. 38
15347443 2004
640
On the mechanism of action of the antifungal agent propionate. 38
15265042 2004
641
An infant with methylmalonic aciduria and homocystinuria (cblC) presenting with retinal haemorrhages and subdural haematoma mimicking non-accidental injury. 38
15221473 2004
642
[Case of methylmalonic acidemia presenting clinically Leigh encephalopathy]. 38
15272617 2004
643
Imaging of the brain, including diffusion-weighted imaging in methylmalonic acidemia. 38
15205843 2004
644
[A pilot study of selective screening for high risk children with inborn error of metabolism using tandem mass spectrometry in China]. 38
15265419 2004
645
The structural basis for methylmalonic aciduria. The crystal structure of archaeal ATP:cobalamin adenosyltransferase. 38
15044458 2004
646
14C-propionate incorporation assay by rapid filtration in multiwell plates. 38
15115697 2004
647
MeaB is a component of the methylmalonyl-CoA mutase complex required for protection of the enzyme from inactivation. 38
14734568 2004
648
Growth hormone deficiency associated with methylmalonic acidemia. 38
15055362 2004
649
Determination of carnitine and acylcarnitines in plasma by high-performance liquid chromatography/electrospray ionization ion trap tandem mass spectrometry. 38
15164354 2004
650
A knock-out mouse model for methylmalonic aciduria resulting in neonatal lethality. 38
14555645 2003
651
Evaluation of the effect of chronic administration of drugs on rat behavior in the water maze task. 38
14613813 2003
652
Neuropsychiatric disturbances in presumed late-onset cobalamin C disease. 38
14568819 2003
653
Effect of propionic and methylmalonic acids on the in vitro phosphorylation of intermediate filaments from cerebral cortex of rats during development. 38
14567471 2003
654
Novel mutations in a Thai patient with methylmalonic acidemia. 38
12948746 2003
655
Ammonia potentiates methylmalonic acid-induced convulsions and TBARS production. 38
12895456 2003
656
N-carbamylglutamate enhances ammonia detoxification in a patient with decompensated methylmalonic aciduria. 38
12948747 2003
657
Magnetic resonance imaging and spectroscopy in a patient with treated methylmalonic acidemia. 38
12886142 2003
658
Potential for misdiagnosis due to lack of metabolic derangement in combined methylmalonic aciduria/hyperhomocysteinemia (cblC) in the neonate. 38
12847533 2003
659
Homocysteine and methylmalonic acid in diagnosis and risk assessment from infancy to adolescence. 38
12816766 2003
660
Ascorbic acid prevents water maze behavioral deficits caused by early postnatal methylmalonic acid administration in the rat. 38
12763258 2003
661
Living-related liver transplantation for methylmalonic acidemia: report of one case. 38
14521026 2003
662
[Methylmalonic aciduria associated with myoclonic convulsions, psychomotor retardation and hypsarrhythmia]. 38
12717652 2003
663
Severe generalized dystonia induced by metoclopramide in a girl with methylmalonic acidemia. 38
12581813 2003
664
Diffusion-weighted imaging in the assessment of neurological damage in patients with methylmalonic aciduria. 38
14518823 2003
665
Severe neutropenia in an infant with methylmalonic acidemia. 38
12898746 2003
666
Infantile mitochondrial DNA depletion syndrome associated with methylmalonic aciduria and 3-methylcrotonyl-CoA and propionyl-CoA carboxylase deficiencies in two unrelated patients: a new phenotype of mtDNA depletion syndrome. 38
14518828 2003
667
Tandem mass spectrometric analysis for disorders in amino, organic and fatty acid metabolism: two year experience in South Korea. 38
15906713 2003
668
CblE type of homocystinuria: mild clinical phenotype in two patients homozygous for a novel mutation in the MTRR gene. 38
12971424 2003
669
Identification of the gene responsible for the cblB complementation group of vitamin B12-dependent methylmalonic aciduria. 38
12471062 2002
670
Diagnosis and monitoring of inborn errors of metabolism using urease-pretreatment of urine, isotope dilution, and gas chromatography-mass spectrometry. 38
12450676 2002
671
Identification of the gene responsible for the cblA complementation group of vitamin B12-responsive methylmalonic acidemia based on analysis of prokaryotic gene arrangements. 38
12438653 2002
672
Molecular studies in mutase-deficient (MUT) methylmalonic aciduria: identification of five novel mutations. 38
12402345 2002
673
Two cases of benign methylmalonic aciduria detected during a pilot study of neonatal urine screening. 38
12127326 2002
674
Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. 38
12210350 2002
675
Newborn mass screening and selective screening using electrospray tandem mass spectrometry in Japan. 38
12127323 2002
676
Long-term survival after liver transplantation in children with metabolic disorders. 38
12234269 2002
677
Progressive neurologic disability in methylmalonic acidemia despite transplantation of the liver. 38
12111189 2002
678
Inhibition of the mitochondrial respiratory chain complex activities in rat cerebral cortex by methylmalonic acid. 38
11900854 2002
679
Early-onset cobalamin C/D deficiency: epilepsy and electroencephalographic features. 38
12060021 2002
680
[Neonatal onset methylmalonic aciduria and homocystinuria:Biochemical and clinical improvement with betaine therapy]. 38
11927078 2002
681
Neurodegeneration in methylmalonic aciduria involves inhibition of complex II and the tricarboxylic acid cycle, and synergistically acting excitotoxicity. 38
11847233 2002
682
Unexplained familial benign methylmalonic aciduria. 38
12014390 2002
683
Metabolic stroke in methylmalonic acidemia five years after liver transplantation. 38
11865284 2002
684
Branched-chain organic acidurias. 38
12069539 2002
685
Kidney transplantation in a girl with methylmalonic acidemia and end stage renal failure. 38
11685586 2001
686
[Metabolic complications and neurologic manifestations of vitamin B12 deficiency in children of vegetarian mothers]. 38
11787236 2001
687
Effects of methylmalonic and propionic acids on glutamate uptake by synaptosomes and synaptic vesicles and on glutamate release by synaptosomes from cerebral cortex of rats. 38
11716825 2001
688
Ventricular septal defect closure in a neonate with combined methylmalonic aciduria/homocystinuria. 38
11603477 2001
689
CblC/D defect combined with haemodynamically highly relevant VSD. 38
11596656 2001
690
N219Y, a new frequent mutation among mut(degree) forms of methylmalonic acidemia in Caucasian patients. 38
11528502 2001
691
Screening for inborn errors of metabolism using gas chromatography-mass spectrometry. 38
11482737 2001
692
[Bilateral hypodensity of the basal ganglia. Clinico-evolutionary correlation in children]. 38
11562866 2001
693
Mutation analysis of the MCM gene in Israeli patients with mut(0) disease. 38
11350191 2001
694
Multi-slice proton MR spectroscopy and diffusion-weighted imaging in methylmalonic acidemia: report of two cases and review of the literature. 38
11337323 2001
695
Adult-onset combined methylmalonic aciduria and homocystinuria (cblC). 38
11320193 2001
696
Early-onset combined methylmalonic aciduria and homocystinuria: neuroradiologic findings. 38
11237984 2001
697
Neurological and neuropathologic heterogeneity in two brothers with cobalamin C deficiency. 38
11261516 2001
698
Chronic postnatal administration of methylmalonic acid provokes a decrease of myelin content and ganglioside N-acetylneuraminic acid concentration in cerebrum of young rats. 38
11175498 2001
699
Molecular and structural analysis of two novel mutations in a patient with mut(-) methylmalonyl-CoA deficiency. 38
11161845 2001
700
Methylmalonic acidemia with renal involvement: a case report and review of literature. 38
18209361 2001
701
EEG in assessing hydroxycobalamin therapy in neonatal methylmalonic aciduria with homocystinuria. 38
11093015 2000
702
Facial anomalies in combined methylmalonic aciduria and homocystinuria. 38
11074504 2000
703
Persistent cobalamin deficiency causing failure to thrive in a juvenile beagle. 38
11023127 2000
704
Establishing gas chromatography-mass spectrometry to diagnose organic acidemias in Thailand. 38
11289022 2000
705
mut0 methylmalonic acidemia: eleven novel mutations of the methylmalonyl CoA mutase including a deletion-insertion mutation. 38
10923046 2000
706
Molecular characterization of methylmalonate semialdehyde dehydrogenase deficiency. 38
10947204 2000
707
Complementation studies in the cblA class of inborn error of cobalamin metabolism: evidence for interallelic complementation and for a new complementation class (cblH). 38
10882753 2000
708
Three siblings with nonketotic hyperglycinaemia, mildly elevated plasma homocysteine concentrations and moderate methylmalonic aciduria. 38
10947210 2000
709
Lethal late onset cblB methylmalonic aciduria. 38
10890676 2000
710
Resting energy expenditure in disorders of propionate metabolism. 38
10802500 2000
711
Identification of undescribed medium-chain acylcarnitines present in urine of patients with propionic and methylmalonic acidemias. 38
10767396 2000
712
Metabolic disorders mimicking Reye's syndrome. 38
10870312 2000
713
Evaluation of urinary acylglycines by electrospray tandem mass spectrometry in mitochondrial energy metabolism defects and organic acidurias. 38
10870848 2000
714
Prolonged exclusive breast-feeding from vegan mother causing an acute onset of isolated methylmalonic aciduria due to a mild mutase deficiency. 38
10867733 2000
715
High cognitive outcome in an adolescent with mut- methylmalonic acidemia. 38
10893496 2000
716
Stereodifferentiation of 3-hydroxyisobutyric- and 3-aminoisobutyric acid in human urine by enantioselective multidimensional capillary gas chromatography-mass spectrometry. 38
10686279 2000
717
[Methylmalonic acidemia]. 38
11212744 2000
718
A two-year-old female with methylmalonic acidemia and progressive low density lesions in the basal ganglia on CT scans. 38
10638145 1999
719
Automated tandem mass spectrometry for mass newborn screening for disorders in fatty acid, organic acid, and amino acid metabolism. 38
10593560 1999
720
Transcobalamin II deficiency with methylmalonic aciduria in three sisters. 38
10518276 1999
721
Cobalamin deficiency associated with erythroblastic anemia and methylmalonic aciduria in a border collie. 38
10493414 1999
722
Pilot study of gas chromatographic-mass spectrometric screening of newborn urine for inborn errors of metabolism after treatment with urease. 38
10492000 1999
723
Outcome of individuals with low-moderate methylmalonic aciduria detected through a neonatal screening program. 38
10356133 1999
724
Minor facial anomalies in combined methylmalonic aciduria and homocystinuria due to a defect in cobalamin metabolism. 38
10384379 1999
725
Long-term outcome in treated combined methylmalonic acidemia and homocystinemia. 38
11258350 1999
726
Cobalamin and folate deficiency: acquired and hereditary disorders in children. 38
9930566 1999
727
Inherited metabolic disorders in Thailand--Siriraj experience. 38
11400749 1999
728
Detection of inborn errors of metabolism in Thai infants via gas chromatography and mass spectrometry. 38
11400759 1999
729
Detection of inherited metabolic disorders via tandem mass spectrometry in Thai infants. 38
11400758 1999
730
Long-term outcome of paediatric patients with hereditary tubular disorders. 38
10529632 1999
731
Therapy of metabolic disorders with intravenous (IV) access ports and long term intravenous L-carnitine therapy. 38
11400757 1999
732
Plasma amino acid and urine organic acid analyses of methylmalonic acidemia in a Thai infant. 38
11400752 1999
733
Molecular analysis of methylmalonyl-CoA mutase deficiency: identification of three missense mutations in mut0 patients. 38
9929975 1999
734
Methylmalonic aciduria (cblF): case report and response to therapy. 38
9779804 1998
735
Methylmalonic semialdehyde dehydrogenase deficiency: psychomotor delay and methylmalonic aciduria without metabolic decompensation. 38
9787093 1998
736
Reliability of biochemical parameters used in prenatal diagnosis of combined methylmalonic aciduria and homocystinuria. 38
9793978 1998
737
Benign methylmalonic acidemia in a sibship with distal renal tubular acidosis. 38
9761355 1998
738
Implantable central venous access devices in children with metabolic disease. 38
9711982 1998
739
Alteration of mitochondrial DNA and RNA level in human fibroblasts with impaired vitamin B12 coenzyme synthesis. 38
9720919 1998
740
Combined liver-kidney transplantation in methylmalonic acidemia. 38
9627602 1998
741
Combined malonic and methylmalonic aciduria with normal malonyl-coenzyme A decarboxylase activity: a case supporting multiple aetiologies. 38
9700595 1998
742
1H MR spectroscopy of the basal ganglia in childhood: a semiquantitative analysis. 38
9638674 1998
743
Genetic defects of folate and cobalamin metabolism. 38
9587028 1998
744
Post- and prenatal diagnostic methods for the homocystinurias. 38
9587033 1998
745
A common mutation among blacks with mut- methylmalonic aciduria. 38
9452100 1998
746
Seven novel mutations in mut methylmalonic aciduria. 38
9554742 1998
747
Biochemical and clinical response to hydroxocobalamin versus cyanocobalamin treatment in patients with methylmalonic acidemia and homocystinuria (cblC). 38
9470012 1998
748
Methionine synthase deficiency without megaloblastic anaemia. 38
9453374 1997
749
Methylmalonic acidemia, cobalamin C type, presenting with cutaneous manifestations. 38
9420542 1997
750
Effective immunoglobulin therapy for brief tonic seizures in methylmalonic acidemia. 38
9408601 1997
751
Effects of methylmalonate and propionate on [3H]glutamate binding, adenylate cyclase activity and lipid synthesis in rat cerebral cortex. 38
9305532 1997
752
Expression and kinetic characterization of methylmalonyl-CoA mutase from patients with the mut- phenotype: evidence for naturally occurring interallelic complementation. 38
9285782 1997
753
Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). 38
9266389 1997
754
Methylmalonic acid reduces the in vitro phosphorylation of cytoskeletal proteins in the cerebral cortex of rats. 38
9296563 1997
755
Diagnostic applications of chromatography and capillary electrophoresis. 38
9061490 1997
756
Methionine and serine formation in control and mutant human cultured fibroblasts: evidence for methyl trapping and characterization of remethylation defects. 38
8979304 1997
757
Modulation of B12 dosage and response in fetal treatment of methylmalonic aciduria (MMA): titration of treatment dose to serum and urine MMA. 38
9101216 1997
758
Mutations in mut methylmalonic acidemia: clinical and enzymatic correlations. 38
8990001 1997
759
[A molecular study of methylmalonic aciduria: structure-function correlations]. 38
9102141 1996
760
Homology modeling of human methylmalonyl-CoA mutase: a structural basis for point mutations causing methylmalonic aciduria. 38
8880917 1996
761
Glutathione deficiency as a complication of methylmalonic acidemia: response to high doses of ascorbate. 38
8804337 1996
762
[Neonatal hemolytic-uremic syndrome associated with methylmalonic aciduria and homocystinuria]. 38
8849144 1996
763
Methylmalonic acid quantification by stable isotope dilution gas chromatography-mass spectrometry from filter paper urine samples. 38
8665683 1996
764
Atypical vitamin B12-unresponsive methylmalonic aciduria in sibship with severe progressive encephalomyelopathy: a new genetic disease? 38
8741039 1996
765
Molecular basis for dysfunction of some mutant forms of methylmalonyl-CoA mutase: deductions from the structure of methionine synthase. 38
8643613 1996
766
Intrastriatal methylmalonic acid administration induces rotational behavior and convulsions through glutamatergic mechanisms. 38
8793091 1996
767
Prenatal diagnosis of organic acidemias based on amniotic fluid levels of acylcarnitines. 38
8848345 1996
768
[Bilateral necrosis of the basal ganglia in methylmalonic acidemia]. 38
8830606 1996
769
Erythroblastopenia associated with methylmalonic aciduria. Case report and in vitro studies. 38
8955917 1996
770
Hereditary defect of cobalamin metabolism (homocystinuria and methylmalonic aciduria) of juvenile onset. 38
8558138 1996
771
A case of familial "benign' methylmalonic aciduria? 38
8892028 1996
772
A new chemical diagnostic method for inborn errors of metabolism by mass spectrometry-rapid, practical, and simultaneous urinary metabolites analysis. 38
27082169 1996
773
Propionylcarnitine excretion is not affected by metronidazole administration to patients with disorders of propionate metabolism. 38
8750807 1996
774
Vitamin B12 in health and disease: part I--inherited disorders of function, absorption, and transport. 38
8775094 1995
775
Free amino acids in amniotic fluid and the prenatal diagnosis of homocystinuria with methylmalonic aciduria. 38
7586560 1995
776
Use of human somatotrophin in the treatment of a patient with methylmalonic aciduria. 38
8529687 1995
777
Diagnosis of inborn errors of metabolism from blood spots by acylcarnitines and amino acids profiling using automated electrospray tandem mass spectrometry. 38
7494654 1995
778
Atypical methylmalonic aciduria with progressive encephalopathy, microcephaly and cataract in two siblings--a new recessive syndrome? 38
7586637 1995
779
Methylmalonic acidemia: brain lesions in a case of vitamin B12 non-responsive (mut0) type. 38
8521625 1995
780
[Molecular diagnosis of a kindred with novel mutation of methylmalonyl-CoA mutase gene using non-RI SSCP]. 38
7602808 1995
781
Methylmalonic aciduria in pregnancy: a case report. 38
7892853 1995
782
[Neonatal diabetes mellitus caused by congenital absence of beta cells associated with methylmalonic acidemia due to uniparental disomy of chromosome 6]. 38
7735457 1995
783
Methylmalonic aciduria