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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2021
Materias:
Original Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172190/
https://www.ncbi.nlm.nih.gov/pubmed/33955723
http://dx.doi.org/10.1002/mgg3.1616

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8172190/
https://www.ncbi.nlm.nih.gov/pubmed/33955723
http://dx.doi.org/10.1002/mgg3.1616

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