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
Ophthalmic manifestations of biotinidase deficiency: report of a case and review of literature.
Abdi F et al.
Ophthalmic Genetics, 2024
Sequence variants in the BTD underlying biotinidase deficiency in families of Pakistani origin.
Moatter T et al.
The Journal of Gene Medicine, 2024
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny P et al.
Journal of Inherited Metabolic Disease, 2022
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
Reversal of Vision Loss in a 49-Year-Old Man With Progressive Optic Atrophy Due to Profound Biotinidase Deficiency.
Kellom ER et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2021
Biotinidase deficiency is a rare, potentially treatable cause of peripheral neuropathy with or without optic neuropathy in adults.
Kellom E et al.
Molecular Genetics and Metabolism Reports, 2021
Clinical, biochemical and mutational findings in biotinidase deficiency among Malaysian population.
Mardhiah M et al.
Molecular Genetics and Metabolism Reports, 2020
Biotinidase Deficiency: Prevalence, Impact And Management Strategies.
Canda E et al.
Pediatric Health, Medicine and Therapeutics, 2020
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Laboratory diagnosis of biotinidase deficiency, 2017 update: a technical standard and guideline of the American College of Medical Genetics and Genomics.
Strovel ET et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Successful outcomes of older adolescents and adults with profound biotinidase deficiency identified by newborn screening.
Wolf B
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Irreversibility of Symptoms with Biotin Therapy in an Adult with Profound Biotinidase Deficiency.
Ferreira P et al.
Jimd Reports, 2017
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T et al.
Plos One, 2017
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Wolf B
Molecular Genetics and Metabolism, 2015
First contiguous gene deletion causing biotinidase deficiency: The enzyme deficiency in three Sri Lankan children.
Senanayake DN et al.
Molecular Genetics and Metabolism Reports, 2015
The Biotinidase Gene Variants Registry: A Paradigm Public Database.
Procter M et al.
G3 (bethesda, Md.), 2013
High frequencies of biotinidase (BTD) gene mutations in the Hungarian population.
Milánkovics I et al.
Journal of Inherited Metabolic Disease, 2010
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
[Maple Syrup Urine Disease in a newborn infant].
Mazur A et al.
Medycyna Wieku Rozwojowego, 0
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
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