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_MOESM2_ESM.xlsx › Table_S2
Clinical, biochemical, and genetic analysis of 28 Chinese patients with holocarboxylase synthetase deficiency.
Ling S et al.
Orphanet Journal of Rare Diseases, 2023
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency].
Wang T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
Wang T et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009
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