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

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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 ph...

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Bibliographic Details
Main Authors:	Lin, Yun-Ting, Cai, Yan-Na, Ting, Tzer Hwu, Liu, Li, Zeng, Chun-Hua, Su, Ling, Peng, Min-Zhi, Li, Xiu-Zhen
Format:	Article
Published:	Baishideng Publishing Group 2023
Online Access:	http://psasir.upm.edu.my/id/eprint/107325/

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