Associated Papers
Case report: A case of holocarboxylase synthetase deficiency with respiratory tract as the initial symptom.
Zou H et al.
Frontiers in Genetics, 2024
Using Long-Term Follow-Up Data to Classify Genetic Variants in Newborn Screened Conditions.
Wilhelm K et al.
Frontiers in Genetics, 2022
35692825 (PubMed )
Supplement: DataSheet1.xlsx › Supplemental_Table_5_-_Scoring_
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
Paracentric Inversion of Chromosome 21 Leading to Disruption of the HLCS Gene in a Family with Holocarboxylase Synthetase Deficiency.
Quinonez SC et al.
Jimd Reports, 2017
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