Associated Papers
Transforming refractory epilepsy management: Trio-WES for enhanced genetic diagnosis and prognosis in children.
Chen Y et al.
Seizure, 2025
Holocarboxylase Synthetase Deficiency: Clinical, Biochemical and Molecular Findings in Five Malaysian Patients Including a Newborn Presenting as Collodion Baby.
Ting SL et al.
Jimd Reports, 2025
Dramatic Clinical Improvement With Biotin Mega-Dose Therapy in a Neonate With Holocarboxylase Synthetase Deficiency.
Kim SW et al.
Molecular Genetics & Genomic Medicine, 2024
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
206,977 newborn screening results reveal the ethnic differences in the spectrum of inborn errors of metabolism in Huaihua, China.
Xiao G et al.
Frontiers in Genetics, 2024
Comprehensive Study of Germline Mutations and Double-Hit Events in Esophageal Squamous Cell Cancer.
Zeng B et al.
Frontiers in Oncology, 2021
33889545 (PubMed )
Supplement: Table_5.XLSX › Sheet1
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
Severe neonatal holocarboxylase synthetase deficiency in west african siblings.
De Castro M et al.
Jimd Reports, 2015
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