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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Bibliografski detalji
Izdano u:Mol Genet Genomic Med
Glavni autori: 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
Jezik:Inglês
Izdano: John Wiley and Sons Inc. 2021
Teme:
Original Articles
Online pristup: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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