Associated Papers
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
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
Two novel mutations in the BCKDHB gene that cause maple syrup urine disease.
Han B et al.
Pediatrics and Neonatology, 2018
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X et al.
Metabolic Brain Disease, 2018
[Maple syrup urine disease caused by two novel BCKDHB gene mutations in a Chinese neonate].
Shen Y et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
[Clinical characteristics and analysis of mass spectrometric data in 33 patients with maple syrup urine disease].
Yang N et al.
Zhonghua Yi Xue Za Zhi, 2012
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