Associated Papers
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
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
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Geng J et al.
Molecular Genetics & Genomic Medicine, 2021
33452876 (PubMed )
Supplement: MGG3-9-e1591-s001.xlsx › Sheet1
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Wolf B et al.
Human Mutation, 2005
Biotinidase biochemical and molecular analyses: Experience at a large reference laboratory.
Sharma R et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0
Select a paper to view details