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
34556729 (PubMed )
Supplement: 41598_2021_98357_MOESM1_ESM.pdf
Identification of eight novel mutations in 11 Chinese patients with maple syrup urine disease.
Sun WH et al.
World Journal of Pediatrics : Wjp, 2020
[Clinical features and SLC6A8 gene mutations of cerebral creatine deficiency syndrome I: an analysis of two families].
Sun WH et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2020
Forty-five patient-derived xenografts capture the clinical and biological heterogeneity of Wilms tumor.
Murphy AJ et al.
Nature Communications, 2019
31862972 (PubMed )
Supplement: 41467_2019_13646_MOESM6_ESM.xlsx › WES_SNV
A Novel Whole Gene Deletion of BCKDHB by Alu-Mediated Non-allelic Recombination in a Chinese Patient With Maple Syrup Urine Disease.
Liu G et al.
Frontiers in Genetics, 2018
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