Associated Papers
Genomic and Structural Investigation of Mutations in Biotinidase (BTD) Gene Deficiency in Greater Middle Eastern Cohort: Insights from Molecular Dynamics Study.
Ibrahim FE et al.
Biomedicines, 2025
41007772 (PubMed )
Supplement: biomedicines-13-02210-s001.zip › biomedicines-3684120_BTD_Table_S1.xlsx › SNPs
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
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Outcomes of individuals with profound and partial biotinidase deficiency ascertained by newborn screening in Michigan over 25 years.
Jay AM et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015
Profound biotinidase deficiency: a rare disease among native Swedes.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2010
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
Biotinidase deficiency: novel mutations and their biochemical and clinical correlates.
Wolf B et al.
Human Mutation, 2005
Hearing loss is a common feature of symptomatic children with profound biotinidase deficiency.
Wolf B et al.
The Journal of Pediatrics, 2002
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
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