Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry

Maple syrup urine disease (MSUD) is an intoxication‐type inherited metabolic disorder in which hyperleucinemia leads to brain swelling and death without treatment. MSUD is caused by branched‐chain alpha‐ketoacid dehydrogenase deficiency due to biallelic loss of the protein products from the genes BC...

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Detalles Bibliográficos
Autores principales: Billington, Charles J., Chapman, Kimberly A., Leon, Eyby, Meltzer, Beatrix W., Berger, Seth I., Olson, Matthew, Figler, Robert A., Hoang, Steve A., Wanxing, Cui, Wamhoff, Brian R., Collado, M. Sol, Cusmano‐Ozog, Kristina
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley & Sons, Inc. 2022
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9542135/
https://www.ncbi.nlm.nih.gov/pubmed/35799415
http://dx.doi.org/10.1002/ajmg.a.62893

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