3-Methylglutaconic Aciduria Type I Is Caused by Mutations in AUH

3-Methylglutaconic aciduria type I is an autosomal recessive disorder clinically characterized by various symptoms ranging from delayed speech development to severe neurological handicap. This disorder is caused by a deficiency of 3-methylglutaconyl-CoA hydratase, one of the key enzymes of leucine d...

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Bibliografski detalji
Glavni autori: IJlst, Lodewijk, Loupatty, Ference J., Ruiter, Jos P. N., Duran, Marinus, Lehnert, Willy, Wanders, Ronald J. A.
Format: Artigo
Jezik:Inglês
Izdano: The American Society of Human Genetics 2002
Teme:
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Online pristup:https://ncbi.nlm.nih.gov/pmc/articles/PMC378594/
https://ncbi.nlm.nih.gov/pubmed/12434311
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