ACOX2 deficiency: A disorder of bile acid synthesis with transaminase elevation, liver fibrosis, ataxia, and cognitive impairment

Acyl CoA Oxidase 2 (ACOX2) encodes branched-chain acyl-CoA oxidase, a peroxisomal enzyme believed to be involved in the metabolism of branched-chain fatty acids and bile acid intermediates. Deficiency of this enzyme has not been described previously. We report an 8-y-old male with intermittently ele...

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Gorde:
Xehetasun bibliografikoak
Argitaratua izan da:Proc Natl Acad Sci U S A
Egile Nagusiak: Vilarinho, Sílvia, Sari, Sinan, Mazzacuva, Francesca, Bilgüvar, Kaya, Esendagli-Yilmaz, Güldal, Jain, Dhanpat, Akyol, Gülen, Dalgiç, Buket, Günel, Murat, Clayton, Peter T., Lifton, Richard P.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: National Academy of Sciences 2016
Gaiak:
Biological Sciences
Sarrera elektronikoa:https://ncbi.nlm.nih.gov/pmc/articles/PMC5056113/
https://ncbi.nlm.nih.gov/pubmed/27647924
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1073/pnas.1613228113
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