Diagnosis of an intermediate case of maple syrup urine disease: A case report

BACKGROUND: Maple syrup urine disease (MSUD) is an autosomal recessive genetic disorder caused by defects in the catabolism of the branched-chain amino acids (BCAAs). However, the clinical and metabolic screening is limited in identifying all MSUD patients, especially those patients with mild phenot...

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Detalles Bibliográficos
Autores principales: Lin, Yun-Ting, Cai, Yan-Na, Ting, Tzer Hwu, Liu, Li, Zeng, Chun-Hua, Su, Ling, Peng, Min-Zhi, Li, Xiu-Zhen
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Baishideng Publishing Group Inc 2023
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979284/
https://www.ncbi.nlm.nih.gov/pubmed/36874425
http://dx.doi.org/10.12998/wjcc.v11.i5.1077

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9979284/
https://www.ncbi.nlm.nih.gov/pubmed/36874425
http://dx.doi.org/10.12998/wjcc.v11.i5.1077

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