Associated Papers
Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening.
Mengler K et al.
Pediatrics, 2024
Genetic analysis by targeted next-generation sequencing and novel variation identification of maple syrup urine disease in Chinese Han population.
Fang X et al.
Scientific Reports, 2021
Molecular and structural analyses of maple syrup urine disease and identification of a founder mutation in a Portuguese Gypsy community.
Quental S et al.
Molecular Genetics and Metabolism, 2008
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
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