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
Biotinidase Deficiency: Report of a Tunisian Case With Neuromyelitis Optica-Like Presentation and Review of the Literature.
Zioudi A et al.
Case Reports in Neurological Medicine, 2025
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Molecular Background and Disease Prevalence of Biotinidase Deficiency in a Polish Population-Data Based on the National Newborn Screening Programme.
Jezela-Stanek A et al.
Genes, 2022
Characterization of the 3'UTR of the BTD gene and identification of regulatory elements and microRNAs.
Silva GCV et al.
Genetics and Molecular Biology, 2022
Biotinidase deficiency mimicking neuromyelitis optica beginning at the age of 4: A treatable disease.
Girard B et al.
Multiple Sclerosis (houndmills, Basingstoke, England), 2017
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T et al.
Plos One, 2017
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Wolf B
Molecular Genetics and Metabolism, 2015
Biotinidase deficiency: Spectrum of molecular, enzymatic and clinical information from newborn screening Ontario, Canada (2007-2014).
Gannavarapu S et al.
Molecular Genetics and Metabolism, 2015
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T et al.
Bmc Medical Genetics, 2014
Biotinidase deficiency presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Raha S et al.
Pediatric Neurology, 2011
Hearing loss in biotinidase deficiency: genotype-phenotype correlation.
Sivri HS et al.
The Journal of Pediatrics, 2007
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
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
[Maple Syrup Urine Disease in a newborn infant].
Mazur A et al.
Medycyna Wieku Rozwojowego, 0