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...
| Main Authors: | , , , , , , , |
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| Format: | Article |
| Published: |
Baishideng Publishing Group
2023
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