Associated Papers
Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.
Guo Y et al.
Orphanet Journal of Rare Diseases, 2023
37308883 (PubMed )
Supplement: 13023_2023_2726_MOESM1_ESM.xlsx › Table_S1
Identification of mutations, genotype-phenotype correlation and prenatal diagnosis of maple syrup urine disease in Indian patients.
Gupta D et al.
European Journal of Medical Genetics, 2015
Description of the mutations in 15 subjects with variant forms of maple syrup urine disease.
Flaschker N et al.
Journal of Inherited Metabolic Disease, 2007
Select a paper to view details