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 a Chinese Han pedigree with holocarboxylase synthetase deficiency: a case report.
Zheng Z et al.
Bmc Medical Genetics, 2020
Holocarboxylase synthetase deficiency pre and post newborn screening.
Donti TR et al.
Molecular Genetics and Metabolism Reports, 2016
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