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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Detalhes bibliográficos
Publicado no:Mol Genet Genomic Med
Main Authors: 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.
Formato: Artigo
Idioma:Inglês
Publicado em: John Wiley and Sons Inc. 2021
Assuntos:
Original Articles
Acesso em linha: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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