MCADD
MCID: MDM001
MIFTS: 31

Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (MCADD) malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Aliases & Descriptions for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

Name: Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 23 50 25 69
Mcad Deficiency 23 50 24 25
Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 29
Medium-Chain Acyl-Coa Dehydrogenase Deficiency 50 25
Acadm Deficiency 50 25
Mcadh Deficiency 50 25
Mcadd 50 25
Acyl-Coa Dehydrogenase Medium Chain Deficiency of 50
Medium Chain Acyl-Coa Dehydrogenase Deficiency 25
Medium Chain Acyl Coa Dehydrogenase Deficiency 50
Medium Chain Acyl Dehydrogenase Deficiency 69

Classifications:



Summaries for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

NIH Rare Diseases : 50 medium-chain acyl-coenzyme a dehydrogenase deficiency (mcadd) is an inherited metabolic disorder that prevents the body from converting certain fats to energy, particularly during periods without food (fasting). normally, through a process called fatty acid oxidation, several enzymes work in a step-wise fashion to break down (metabolize) fats and convert them to energy. people with mcadd do not have enough of an enzyme needed for the step that metabolizes a group of fats called medium-chain fatty acids. mcadd is caused by mutations in the acadm gene and is inherited in an autosomal recessive manner. treatment includes avoidance of fasting and of medium chain triglycerides in the diet. last updated: 7/7/2014

MalaCards based summary : Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency, also known as mcad deficiency, is related to acyl-coa dehydrogenase, medium chain, deficiency of and sudden infant death syndrome, and has symptoms including lethargy, seizures and vomiting. An important gene associated with Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency is ACADM (Acyl-CoA Dehydrogenase, C-4 To C-12 Straight Chain). The drugs Bezafibrate and Glycerol have been mentioned in the context of this disorder. Affiliated tissues include liver.

Genetics Home Reference : 25 Medium-chain acyl-CoA dehydrogenase (MCAD) deficiency is a condition that prevents the body from converting certain fats to energy, particularly during periods without food (fasting).

GeneReviews: NBK1424

Related Diseases for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 acyl-coa dehydrogenase, medium chain, deficiency of 11.5
2 sudden infant death syndrome 10.1
3 cystic fibrosis 10.1
4 isovaleric acidemia 10.1
5 congenital adrenal hyperplasia 10.1
6 ketothiolase deficiency 10.1
7 encephalopathy 10.1

Graphical network of the top 20 diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:



Diseases related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Symptoms & Phenotypes for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

UMLS symptoms related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:


lethargy, seizures, vomiting

Drugs & Therapeutics for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Drugs for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 22)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Bezafibrate Approved Phase 2 41859-67-0 39042
2
Glycerol Approved, Experimental Phase 2,Phase 1 56-81-5 753
3 Hypolipidemic Agents Phase 2
4 Lipid Regulating Agents Phase 2
5 Antimetabolites Phase 2
6 carnitine Nutraceutical Phase 2
7 4-phenylbutyric acid Phase 1
8 Protective Agents Phase 1
9
Heparin Approved, Investigational 9005-49-6 772 46507594
10
Pyruvate Approved, Nutraceutical
11 calcium heparin
12 insulin
13 Soybean oil, phospholipid emulsion
14 Parenteral Nutrition Solutions
15 Pharmaceutical Solutions
16 Hypoglycemic Agents
17 Fat Emulsions, Intravenous
18 Fibrinolytic Agents
19 Anticoagulants
20 Insulin, Globin Zinc
21 Calcium, Dietary
22 Soy Bean Nutraceutical

Interventional clinical trials:


id Name Status NCT ID Phase
1 Effect of Bezafibrate on Muscle Metabolism in Patients With Fatty Acid Oxidation Defects Completed NCT00983788 Phase 2
2 High Protein Diet in Patients With Long-chain Fatty Acid Oxidation Disorders Completed NCT01494051 Phase 1, Phase 2
3 Study of Triheptanoin for Treatment of Long-Chain Fatty Acid Oxidation Disorder Completed NCT01379625 Phase 2
4 An Open-label Phase 2 Study of UX007 (Triheptanoin) in Subjects With Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Completed NCT01886378 Phase 2
5 Long-Chain Fatty Acid Oxidation Disorders (LC-FAOD) Extension Study for Subjects Previously Enrolled in Triheptanoin Studies. Enrolling by invitation NCT02214160 Phase 2
6 Use of Ravictiâ„¢ in Patients With MCAD Deficiency With the 985A>G (K304E) Mutation Completed NCT01881984 Phase 1
7 Fatty Acid Oxidation Defects and Insulin Sensitivity Recruiting NCT02517307
8 Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy Recruiting NCT02635269
9 Compassionate Use of Triheptanoin (C7) for Inherited Disorders of Energy Metabolism Available NCT01461304

Search NIH Clinical Center for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic Tests for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Genetic tests related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

id Genetic test Affiliating Genes
1 Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency 29
2 Medium Chain Acyl-Coenzyme a Dehydrogenase Deficiency 24 ACADM

Anatomical Context for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

MalaCards organs/tissues related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

39
Liver

Publications for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Articles related to Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

(show all 45)
id Title Authors Year
1
221 newborn-screened neonates with medium-chain acyl-coenzyme A dehydrogenase deficiency: Findings from the Inborn Errors of Metabolism Collaborative. ( 27477829 )
2016
2
Medium-chain acyl-Coenzyme A dehydrogenase deficiency (MCADD): a cause of severe hypoglycaemia in an apparently well child. ( 27903579 )
2016
3
Recurrent Ventricular Tachycardia in Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency. ( 26404458 )
2015
4
Child Neurology: medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 26215884 )
2015
5
Resuscitation of a neonate with medium chain acyl-coenzyme a dehydrogenase deficiency using extracorporeal life support. ( 24403369 )
2014
6
Prolonged QTc interval in association with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 24799540 )
2014
7
First case report of medium-chain acyl-coenzyme A dehydrogenase deficiency in China. ( 25503862 )
2014
8
Patients with medium-chain acyl-coenzyme a dehydrogenase deficiency have impaired oxidation of fat during exercise but no effect of L-carnitine supplementation. ( 23426616 )
2013
9
Rare magnetic resonance imaging findings in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 21824573 )
2011
10
Sudden death in medium chain acyl-coenzyme a dehydrogenase deficiency (MCADD) despite newborn screening. ( 20580581 )
2010
11
Neuropsychological functioning in children with medium chain acyl coenzyme a dehydrogenase deficiency (MCADD): the impact of early diagnosis and screening on outcome. ( 18608229 )
2009
12
A fatal neonatal presentation of medium-chain acyl coenzyme a dehydrogenase deficiency. ( 18534147 )
2008
13
More on medium-chain acyl-coenzyme a dehydrogenase deficiency in a neonate. ( 18256406 )
2008
14
Medium chain acyl-coenzyme A dehydrogenase deficiency in a neonate. ( 17960024 )
2007
15
Public health explores expanding newborn screening for cystic fibrosis, congenital adrenal hyperplasia, and medium-chain acyl coenzyme A dehydrogenase deficiency (MCAD). ( 11392180 )
2001
16
Fasting medium chain acyl-coenzyme A dehydrogenase--deficient children can make ketones. ( 11229423 )
2001
17
Medium-chain acyl coenzyme A dehydrogenase deficiency: occurrence in an infant and his father. ( 11346377 )
2001
18
Enantioselective analysis of ketone bodies in patients with beta-ketothiolase deficiency, medium-chain acyl coenzyme A dehydrogenase deficiency and ketonemic vomiting. ( 10755375 )
2000
19
Pitfalls in the use of 2-octynoic acid as an in vivo model of medium-chain acyl-coenzyme A dehydrogenase deficiency: ketone turnover and metabolite studies in the rat. ( 10381140 )
1999
20
High risk of medium chain acyl-coenzyme A dehydrogenase deficiency among gypsies. ( 9667375 )
1998
21
Simple high-performance liquid chromatographic method for the detection of phenylpropionylglycine in urine as a diagnostic tool in inherited medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 9234867 )
1997
22
Neonatal onset of medium-chain acyl-coenzyme A dehydrogenase deficiency with confusing biochemical features. ( 7815228 )
1995
23
Medium-chain acyl-coenzyme A dehydrogenase deficiency: clinical course in 120 affected children. ( 8120710 )
1994
24
Intravenous L-carnitine and acetyl-L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency and isovaleric acidemia. ( 8134205 )
1994
25
Analysis of polymerase chain reaction-product by capillary electrophoresis with laser-induced fluorescence detection and its application to the diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 7981832 )
1994
26
Morbidity and mortality in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8017963 )
1994
27
Laboratory diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency by the amplification refractory mutation system. ( 8432018 )
1993
28
Neonatal symptoms in medium chain acyl coenzyme A dehydrogenase deficiency. ( 8215568 )
1993
29
Limitations of 3-phenylpropionylglycine in early screening for medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8419594 )
1993
30
Effect of treatment with glycine and L-carnitine in medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 8463904 )
1993
31
Prevalence of medium-chain acyl-coenzyme A dehydrogenase deficiency in the sudden infant death syndrome. ( 8496748 )
1993
32
Medium-Chain Acyl-Coenzyme A Dehydrogenase Deficiency ( 20301597 )
1993
33
Medium chain acyl-coenzyme A dehydrogenase deficiency. ( 1436730 )
1992
34
Medium chain acyl-coenzyme A dehydrogenase deficiency and SIDS. ( 1635678 )
1992
35
A fatal neonatal case of medium-chain acyl-coenzyme A dehydrogenase deficiency with homozygous A-->G985 transition. ( 1447668 )
1992
36
Fatty liver, encephalopathy, and sudden unexpected death in early childhood due to medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 1288265 )
1992
37
An unusual presentation of medium-chain acyl coenzyme A dehydrogenase deficiency. ( 1456259 )
1992
38
Medium-chain acyl-coenzyme A dehydrogenase deficiency and sudden infant death. ( 2046713 )
1991
39
Molecular basis of medium chain acyl-coenzyme A dehydrogenase deficiency. An A to G transition at position 985 that causes a lysine- 304 to glutamate substitution in the mature protein is the single prevalent mutation. ( 2394825 )
1990
40
Diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency in the neonatal period by measurement of medium-chain fatty acids in plasma and filter paper blood samples. ( 2391601 )
1990
41
Quantitation of urinary carnitine esters in a patient with medium-chain acyl-coenzyme A dehydrogenase deficiency: effect of metabolic state and L-carnitine therapy. ( 2795349 )
1989
42
Prenatal diagnosis of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3575262 )
1987
43
Familial Reye-like syndrome: a presentation of medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3822638 )
1987
44
Sudden child death and 'healthy' affected family members with medium-chain acyl-coenzyme A dehydrogenase deficiency. ( 3786030 )
1986
45
Catalytic defect of medium-chain acyl-coenzyme A dehydrogenase deficiency. Lack of both cofactor responsiveness and biochemical heterogeneity in eight patients. ( 3840178 )
1985

Variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

ClinVar genetic disease variations for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency:

6 (show all 47)
id Gene Variation Type Significance SNP ID Assembly Location
1 ACADM NM_001127328.2(ACADM): c.997A> G (p.Lys333Glu) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
2 ACADM NM_000016.5(ACADM): c.999_1011dupTAGAATGAGTTAC (p.Gln338Terfs) duplication Pathogenic/Likely pathogenic rs786204522 GRCh37 Chromosome 1, 76226860: 76226872
3 ACADM NM_000016.5(ACADM): c.799G> A (p.Gly267Arg) single nucleotide variant Pathogenic rs121434274 GRCh37 Chromosome 1, 76215194: 76215194
4 ACADM NM_000016.5(ACADM): c.1124T> C (p.Ile375Thr) single nucleotide variant Pathogenic rs121434275 GRCh37 Chromosome 1, 76226985: 76226985
5 ACADM NM_000016.5(ACADM): c.730T> C (p.Cys244Arg) single nucleotide variant Pathogenic rs121434276 GRCh37 Chromosome 1, 76215125: 76215125
6 ACADM NM_000016.5(ACADM): c.447G> A (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh37 Chromosome 1, 76200535: 76200535
7 ACADM NM_000016.5(ACADM): c.1102_1105delTTAG (p.Ala369Leufs) deletion Pathogenic rs387906297 GRCh37 Chromosome 1, 76226963: 76226966
8 ACADM NM_000016.5(ACADM): c.343_348delGGATGT (p.Gly115_Cys116del) deletion Pathogenic rs864621963 GRCh38 Chromosome 1, 75733584: 75733589
9 ACADM NM_000016.5(ACADM): c.583G> A (p.Gly195Arg) single nucleotide variant Pathogenic/Likely pathogenic rs121434278 GRCh37 Chromosome 1, 76205779: 76205779
10 ACADM NM_000016.5(ACADM): c.577A> G (p.Thr193Ala) single nucleotide variant Pathogenic rs121434279 GRCh37 Chromosome 1, 76205773: 76205773
11 ACADM NM_000016.5(ACADM): c.842G> C (p.Arg281Thr) single nucleotide variant Pathogenic rs121434282 GRCh37 Chromosome 1, 76215237: 76215237
12 ACADM NM_000016.5(ACADM): c.199T> C (p.Tyr67His) single nucleotide variant Pathogenic rs121434280 GRCh37 Chromosome 1, 76198409: 76198409
13 ACADM NM_000016.5(ACADM): c.734C> T (p.Ser245Leu) single nucleotide variant Pathogenic/Likely pathogenic rs121434281 GRCh37 Chromosome 1, 76215129: 76215129
14 ACADM NM_000016.5(ACADM): c.362C> T (p.Thr121Ile) single nucleotide variant Pathogenic rs121434283 GRCh37 Chromosome 1, 76199288: 76199288
15 ACADM NM_000016.5(ACADM): c.157C> T (p.Arg53Cys) single nucleotide variant Pathogenic/Likely pathogenic rs398123072 GRCh37 Chromosome 1, 76198367: 76198367
16 ACADM NM_000016.5(ACADM): c.216+2T> G single nucleotide variant Pathogenic rs398123073 GRCh37 Chromosome 1, 76198428: 76198428
17 ACADM NM_000016.5(ACADM): c.233T> C (p.Ile78Thr) single nucleotide variant Pathogenic rs398123074 GRCh37 Chromosome 1, 76198554: 76198554
18 ACADM NM_000016.5(ACADM): c.617G> A (p.Arg206His) single nucleotide variant Pathogenic rs200724875 GRCh37 Chromosome 1, 76211508: 76211508
19 ACADM NM_000016.5(ACADM): c.244dupT (p.Trp82Leufs) duplication Pathogenic/Likely pathogenic rs786204566 GRCh38 Chromosome 1, 75732880: 75732880
20 ACADM NM_000016.5(ACADM): c.449_452delCTGA (p.Thr150Argfs) deletion Pathogenic/Likely pathogenic rs786204642 GRCh38 Chromosome 1, 75734852: 75734855
21 ACADM NM_000016.5(ACADM): c.1045C> T (p.Arg349Ter) single nucleotide variant Pathogenic/Likely pathogenic rs148207467 GRCh38 Chromosome 1, 75761221: 75761221
22 ACADM NM_000016.5(ACADM): c.287-1G> C single nucleotide variant Pathogenic rs794727694 GRCh37 Chromosome 1, 76199212: 76199212
23 ACADM NM_000016.5(ACADM): c.426delG (p.Lys143Argfs) deletion Pathogenic rs777998984 GRCh37 Chromosome 1, 76200514: 76200514
24 ACADM NM_000016.5(ACADM): c.797A> G (p.Asp266Gly) single nucleotide variant Pathogenic rs201375579 GRCh37 Chromosome 1, 76215192: 76215192
25 ACADM NM_000016.5(ACADM): c.-6_6delGCCAACATGGCAinsACCCCGAAGG indel Pathogenic rs875989865 GRCh37 Chromosome 1, 76190467: 76190478
26 ACADM NM_000016.5(ACADM): c.107_113dupGATTTAG (p.Ser38Argfs) duplication Pathogenic/Likely pathogenic rs875989875 GRCh37 Chromosome 1, 76194162: 76194168
27 ACADM NM_000016.5(ACADM): c.250C> T (p.Leu84Phe) single nucleotide variant Pathogenic rs762114560 GRCh37 Chromosome 1, 76198571: 76198571
28 ACADM NM_000016.5(ACADM): c.322_325delATTA (p.Ile108Valfs) deletion Pathogenic rs875989873 GRCh37 Chromosome 1, 76199248: 76199251
29 ACADM NM_000016.5(ACADM): c.347G> A (p.Cys116Tyr) single nucleotide variant Pathogenic rs875989859 GRCh38 Chromosome 1, 75733588: 75733588
30 ACADM NM_000016.5(ACADM): c.447G> T (p.Met149Ile) single nucleotide variant Pathogenic rs121434277 GRCh38 Chromosome 1, 75734850: 75734850
31 ACADM NM_000016.5(ACADM): c.464T> C (p.Met155Thr) single nucleotide variant Pathogenic rs875989876 GRCh38 Chromosome 1, 75734867: 75734867
32 ACADM NM_000016.5(ACADM): c.469-1G> A single nucleotide variant Pathogenic rs875989869 GRCh37 Chromosome 1, 76205664: 76205664
33 ACADM NM_000016.5(ACADM): c.600-18G> A single nucleotide variant Pathogenic/Likely pathogenic rs370523609 GRCh37 Chromosome 1, 76211473: 76211473
34 ACADM NM_000016.5(ACADM): c.609A> C (p.Leu203Phe) single nucleotide variant Pathogenic rs751829413 GRCh37 Chromosome 1, 76211500: 76211500
35 ACADM NM_000016.5(ACADM): c.742A> G (p.Arg248Gly) single nucleotide variant Pathogenic rs875989867 GRCh37 Chromosome 1, 76215137: 76215137
36 ACADM NM_000016.5(ACADM): c.817_829delGCAATGGGAGCTT (p.Ala273Leufs) deletion Pathogenic/Likely pathogenic rs875989872 GRCh38 Chromosome 1, 75749527: 75749539
37 ACADM NM_000016.5(ACADM): c.881G> C (p.Arg294Thr) single nucleotide variant Pathogenic/Likely pathogenic rs779759347 GRCh37 Chromosome 1, 76216167: 76216167
38 ACADM NM_000016.5(ACADM): c.926dupT (p.Gly310Argfs) duplication Pathogenic/Likely pathogenic rs875989864 GRCh37 Chromosome 1, 76216212: 76216212
39 ACADM NM_000016.5(ACADM): c.984delG (p.Met328Ilefs) deletion Pathogenic rs747610156 GRCh37 Chromosome 1, 76226845: 76226845
40 ACADM NM_000016.5(ACADM): c.985A> C (p.Lys329Gln) single nucleotide variant Pathogenic rs77931234 GRCh37 Chromosome 1, 76226846: 76226846
41 ACADM NM_000016.5(ACADM): c.1012C> T (p.Gln338Ter) single nucleotide variant Pathogenic rs796051896 GRCh37 Chromosome 1, 76226873: 76226873
42 ACADM NM_000016.5(ACADM): c.1012_1013insTAGAATGAGTTAC (p.Gln338Leufs) insertion Pathogenic rs875989874 GRCh37 Chromosome 1, 76226873: 76226874
43 ACADM NM_000016.5(ACADM): c.1189dupT (p.Tyr397Leufs) duplication Pathogenic rs875989877 GRCh38 Chromosome 1, 75761365: 75761365
44 ACADM NM_000016.5(ACADM): c.1221_1222delAA (p.Arg408Thrfs) deletion Pathogenic rs875989860 GRCh38 Chromosome 1, 75762718: 75762719
45 ACADM NM_000016.5(ACADM): c.387+1G> A single nucleotide variant Pathogenic rs1057516983 GRCh37 Chromosome 1, 76199314: 76199314
46 ACADM NM_000016.5(ACADM): c.431_434delAGTA (p.Lys144Ilefs) deletion Pathogenic rs1057517356 GRCh37 Chromosome 1, 76200519: 76200522
47 ACADM NM_000016.5(ACADM): c.287-2A> G single nucleotide variant Pathogenic rs1057518677 GRCh37 Chromosome 1, 76199211: 76199211

Expression for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Search GEO for disease gene expression data for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency.

Pathways for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

GO Terms for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

Sources for Medium-Chain Acyl-Coenzyme a Dehydrogenase Deficiency

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
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37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
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48 NDF-RT
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52 Novoseek
54 OMIM
55 OMIM via Orphanet
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68 Tocris
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