Associated Papers
Beyond the homozygous paradigm: symptomatic partial biotinidase deficiency in a heterozygous child-first case report from Nepal.
Kunwar J et al.
Bmc Pediatrics, 2025
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Evaluating reproductive carrier screening using biotinidase deficiency as a model: Variants identified, variant rates, and management.
Benn P et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.
Azizinejad F et al.
Gene, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_1
Comprehensive analysis of genotypic and phenotypic characteristics of biotinidase deficiency patients in the eastern region of Türkiye.
Çıkı K et al.
The Turkish Journal of Pediatrics, 2024
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
Evaluation of clinical, laboratory, and molecular genetic features of patients with biotinidase deficiency.
Yılmaz B et al.
European Journal of Pediatrics, 2024
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Al-Eitan LN et al.
Journal of Personalized Medicine, 2020
A retrospective study on biotinidase deficiency: analysis of the Eastern Anatolia region patient cohort.
Yaralı O et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 0
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