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
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 analysis in four Chinese patients with multiple carboxylase deficiency].
Li D et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
Mutations in the holocarboxylase synthetase gene HLCS.
Suzuki Y et al.
Human Mutation, 2005
Structure of human holocarboxylase synthetase gene and mutation spectrum of holocarboxylase synthetase deficiency.
Yang X et al.
Human Genetics, 2001
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