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
Integration of multi-omics layers empowers precision diagnosis through unveiling pathogenic mechanisms on maple syrup urine disease.
Tejedor JR et al.
Journal of Inherited Metabolic Disease, 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
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
30665703 (PubMed )
Supplement: mmc3.xlsx › data_for_supp2
Maple syrup urine disease: further evidence that newborn screening may fail to identify variant forms.
Puckett RL et al.
Molecular Genetics and Metabolism, 2010
Mutational spectrum of maple syrup urine disease in Spain.
Rodríguez-Pombo P et al.
Human Mutation, 2006
Identification of twelve novel mutations in patients with classic and variant forms of maple syrup urine disease.
Henneke M et al.
Human Mutation, 2003
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