|1|Novel CLPB mutation in a patient with 3-methylglutaconic aciduria causing severe neurological involvement and congenital neutropenia. (26916670)
Kiykim A.... Baris S.
|2|Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria. (25650066)
Capo-Chichi J.M.... Michaud J.L.
|3|Clinical manifestations and enzymatic activities of mitochondrial respiratory chain complexes in Pearson marrow-pancreas syndrome with 3-methylglutaconic aciduria: a case report and literature review. (26074369)
Sato T.... Adachi M.
|4|The neuropsychological profile of patients with 3-methylglutaconic aciduria type III, Costeff syndrome. (25657044)
Sofer S.... Hassin-Baer S.
|5|Leucine Loading Test is Only Discriminative for 3-Methylglutaconic Aciduria Due to AUH Defect. (24757000)
Wortmann S.B.... Morava E.
|6|Inborn errors of metabolism with 3-methylglutaconic aciduria as discriminative feature: proper classification and nomenclature. (23296368)
Wortmann S.B.... Wevers R.A.
|7|Mild form of 3-methylglutaconic aciduria type IV and mutation in the TMEM70 genes. (23382305)
StojanoviA8 V.... Doronjski A.
|8|Infantile mitochondrial hepatopathy is a cardinal feature of MEGDEL syndrome (3-methylglutaconic aciduria type IV with sensorineural deafness, encephalopathy and Leigh-like syndrome) caused by novel mutations in SERAC1. (23918762)
Sarig O.... Mandel H.
|9|Exome sequencing identifies a new mutation in SERAC1 in a patient with 3-methylglutaconic aciduria. (23707711)
Tort F.... Ribes A.
|10|Screening for nuclear genetic defects in the ATP synthase-associated genes TMEM70, ATP12 and ATP5E in patients with 3-methylglutaconic aciduria. (21815885)
Tort F.... Ribes A.
|11|3-methylglutaconic aciduria type IV: a syndrome with an evolving phenotype. (21646875)
Wortmann S.B.... Morava E.
|12|Phenotypic heterogeneity in two siblings with 3-methylglutaconic aciduria type I caused by a novel intragenic deletion. (21840233)
Mercimek-Mahmutoglu S.... Casey B.
|13|OPA3, mutated in 3-methylglutaconic aciduria type III, encodes two transcripts targeted primarily to mitochondria. (20350831)
Huizing M.... Anikster Y.
|14|Induction of oxidative stress by the metabolites accumulating in 3-methylglutaconic aciduria in cerebral cortex of young rats. (18261750)
Leipnitz G.... Wajner M.
|15|Myeloid dysplasia in familial 3-methylglutaconic aciduria. (16462576)
Haimi M.... Mandel H.
|16|NMR spectroscopic studies on the late onset form of 3-methylglutaconic aciduria type I and other defects in leucine metabolism. (16541463)
Engelke U.F.... Wevers R.A.
|17|Association of 3-methylglutaconic aciduria with sensori-neural deafness, encephalopathy, and Leigh-like syndrome (MEGDEL association) in four patients with a disorder of the oxidative phosphorylation. (16527507)
Wortmann S.... Morava E.
|18|A molecular lesion in a Japanese patient with severe phenotype of 3-methylglutaconic aciduria type I. (16354225)
Matsumori M.... Takada G.
|19|3-Methylglutaconic aciduria: a common biochemical marker in various syndromes with diverse clinical features. (15719488)
|20|OPA3 mutation screening in patients with unexplained 3-methylglutaconic aciduria. (15902555)
Neas K.... Christodoulou J.
|21|Barth syndrome without 3-methylglutaconic aciduria. (15124852)
Schmidt M.R.... Sunde L.
|22|3-methylglutaconic aciduria type I in a boy with fever-associated seizures. (15033206)
Illsinger S.... Das A.M.
|23|Fungal metabolic model for type I 3-methylglutaconic aciduria. (15181004)
RodrA-guez J.M.... PeA+alva M.A.
|24|Direct nonisotopic assay of 3-methylglutaconyl-CoA hydratase in cultured human skin fibroblasts to specifically identify patients with 3-methylglutaconic aciduria type I. (15192029)
Loupatty F.J.... Wanders R.J.
|25|Mutations in the AUH gene cause 3-methylglutaconic aciduria type I. (12655555)
Ly T.B.N.... Zschocke J.
|26|Nephrocalcinosis and medullary cysts in 3-methylglutaconic aciduria. (12750979)
Laube G.F.... van't Hoff W.G.
|27|3-Methylglutaconic aciduria type III in a non-Iraqi-Jewish kindred: clinical and molecular findings. (12126933)
Kleta R.... Anikster Y.
|28|Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria. (11292221)
Scaglia F.... Vladutiu G.D.
|29|A case of 3-methylglutaconic aciduria misdiagnosed as cerebral palsy. (11118804)
Pantaleoni C.... Riva D.
|30|18Fluoro-2-deoxyglucose (18FDG) PET scan of the brain in type IV 3-methylglutaconic aciduria: clinical and MRI correlations. (10082249)
Al-Essa M.... Ozand P.T.
|31|3-Methylglutaconic aciduria and hypermethioninaemia in a child with clinical and neuroradiological findings of Leigh disease. (10399091)
Di Rocco M.... Gibson K.M.
|32|Maternal 3-methylglutaconic aciduria associated with abnormalities in offspring. (8826820)
de Koning T.J.... Poll-The B.T.
|33|3-Methylglutaconic aciduria, type 3. (7573769)
Costeff H.... Elpeleg O.N.
|34|Dilated cardiomyopathy with 3-methylglutaconic aciduria. (7997421)
Draaisma J.M.... Sengers R.C.
|35|Dilated cardiomyopathy due to type II X-linked 3-methylglutaconic aciduria: successful treatment with pantothenic acid. (7833193)
Ostman-Smith I.... Land J.M.
|36|Multiple respiratory chain abnormalities associated with hypertrophic cardiomyopathy and 3-methylglutaconic aciduria. (7691603)
Ibel H.... Gibson K.M.
|37|3-Methylglutaconic aciduria in a patient with Pearson syndrome. (8482296)
Lichter-Konecki U.... Bremer H.J.
|38|3-Methylglutaconic aciduria in "optic atrophy plus". (8494328)
Costeff H.... Gadoth N.
|39|OPA3-Related 3-Methylglutaconic Aciduria (20301646)
Pagon R.A.... Stephens K.
|40|Mitochondrial ATP-synthase deficiency in a child with 3-methylglutaconic aciduria. (1287564)
Holme E.... Tulinius M.
|41|3-Methylglutaconic aciduria: a new variant. (1594352)
Zeharia A.... Mimouni M.
|42|3-Methylglutaconic aciduria associated with Pearson syndrome and respiratory chain defects. (1447663)
Gibson K.M.... Trefz F.K.
|43|3-Methylglutaconic aciduria in a patient with a disturbed mitochondrial energy metabolism. (1499591)
Bakkeren J.A.... Trijbels J.M.
|44|Phenotypic heterogeneity in the syndromes of 3-methylglutaconic aciduria. (1710267)
Gibson K.M.... Schrynemackers-Pitance P.
|45|3-Methylglutaconic aciduria with persistent metabolic acidosis and 'uncoupling episodes'. (2116558)
Elpeleg O.N.... Amir N.
|46|3-Methylglutaconic aciduria: a phenotype in which activity of 3-methylglutaconyl-coenzyme A hydratase is normal. (3197737)
Gibson K.M.... van Sprang F.J.
|47|Episodes of severe metabolic acidosis in a patient with 3-methylglutaconic aciduria. (2445577)
Haan E.A.... Brown G.K.
|48|Deficiency of 3-methylglutaconyl-coenzyme A hydratase in two siblings with 3-methylglutaconic aciduria. (3082934)
Narisawa K.... Wadman S.K.
|49|3-Methylglutaconic aciduria in two infants. (6197209)
Hagberg B.... Steen G.