Associated Papers
Clinical and genetic analysis of four Chinese patients with holocarboxylase synthetase deficiency and metabolic acidosis.
Zheng Z et al.
Orphanet Journal of Rare Diseases, 2025
Diagnostic yield of expanded carrier screening of a multi-ethnic population in yunnan, China.
Wang H et al.
Scientific Reports, 2025
40604033 (PubMed )
Supplement: 41598_2025_8012_MOESM1_ESM.xlsx › S3
Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.
Zou H et al.
Frontiers in Genetics, 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_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
Case report of holocarboxylase synthetase deficiency (late-onset) in 2 Chinese patients.
Xiong Z et al.
Medicine, 2020
[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
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y et al.
Human Mutation, 2005
Clustering of mutations in the biotin-binding region of holocarboxylase synthetase in biotin-responsive multiple carboxylase deficiency.
Dupuis L et al.
Human Molecular Genetics, 1996
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