Associated Papers
Thiamine-responsive maple syrup urine disease missed by newborn screen: A case report.
Upadia J et al.
Molecular Genetics and Metabolism Reports, 2025
Genomic and biochemical analysis of repeatedly observed variants in DBT in individuals with maple syrup urine disease of Central American ancestry.
Billington CJ et al.
American Journal of Medical Genetics. Part A, 2022
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Park KJ et al.
Annals of Laboratory Medicine, 2016
27578510 (PubMed )
Supplement: alm-36-561-s006.pdf
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