Associated Papers
Incidence and disease spectrum of inherited metabolic diseases screened by tandem mass spectrometry in Huai'an from 2018 to 2024.
Ou MM et al.
Frontiers in Pediatrics, 2025
Newborn screening of maple syrup urine disease and the effect of early diagnosis.
Chen T et al.
Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023
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
Neonatal maple syrup urine disease in China: two novel mutations in the BCKDHB gene and literature review.
Jiang HH et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
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
34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf
Maple syrup urine disease diagnosis in Brazilian patients by massive parallel sequencing.
Tresbach RH et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details