Associated Papers
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
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny P et al.
Journal of Inherited Metabolic Disease, 2022
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
32305867 (PubMed )
Supplement: mmc3.xlsx › Excluded_variants
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
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