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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...
Autores principales: | Lin, Yun-Ting, Cai, Yan-Na, Ting, Tzer Hwu, Liu, Li, Zeng, Chun-Hua, Su, Ling, Peng, Min-Zhi, Li, Xiu-Zhen |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Baishideng Publishing Group Inc
2023
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Materias: | |
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 |
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