Associated Papers
Whole-exome sequencing as the first-tier test for patients in neonatal intensive care unit: a Chinese single-center study.
Zhang R et al.
Bmc Pediatrics, 2024
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 gene mutations in six Chinese patients with maple syrup urine disease.
Li L et al.
Frontiers in Genetics, 2023
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
Expanded carrier screening in Chinese patients seeking the help of assisted reproductive technology.
Xi Y et al.
Molecular Genetics & Genomic Medicine, 2020
32573981 (PubMed )
Supplement: MGG3-8-e1340-s004.pdf
[A classic case with maple syrup urine disease caused by compound heterozygous mutations of BCKDHB gene].
Song D et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2018
Silico analysis of a novel mutation c.550delT in a Chinese patient with maple syrup urine disease.
Li W et al.
Clinical Case Reports, 2018
Clinical characteristics and mutation analysis of five Chinese patients with maple syrup urine disease.
Li X et al.
Metabolic Brain Disease, 2018
[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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