Expanding the genotypic and phenotypic spectrum of Egyptian children with maple syrup urine disease
Sci Rep. 2024 Nov 18;14(1):28391. doi: 10.1038/s41598-024-78105-y. ABSTRACT Maple Syrup Urine Disease (MSUD, OMIM# 248600) is an autosomal recessive inborn error of metabolism characterized by …