Molecular basis of various forms of maple syrup urine disease in Chilean patients

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive inherited metabolic disorder caused by the deficient activity of the branched‐chain α‐keto acid dehydrogenase (BCKD) enzymatic complex. BCKD is a mitochondrial complex encoded by four genes: BCKDHA, BCKDHB, DBT, and DLD. MSUD is...

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Détails bibliographiques
Publié dans:Mol Genet Genomic Med
Auteurs principaux: Campanholi, Diana Ruffato Resende, Margutti, Ana Vitoria Barban, Silva, Wilson A., Garcia, Daniel F., Molfetta, Greice A., Marques, Adriana A., Schwartz, Ida Vanessa Döederlein, Cornejo, V., Hamilton, Valerie, Castro, Gabriela, Sperb‐Ludwig, Fernanda, Borges, Ester S., Camelo, José S.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2021
Sujets:
Original Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC8172190/
https://ncbi.nlm.nih.gov/pubmed/33955723
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/mgg3.1616
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