Associated Papers
Identification of gene mutations in six Chinese patients with maple syrup urine disease.
Li L et al.
Frontiers in Genetics, 2023
Maple syrup urine disease in Brazilian patients: variants and clinical phenotype heterogeneity.
Margutti AVB et al.
Orphanet Journal of Rare Diseases, 2020
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
Select a paper to view details