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
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
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
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
The Israeli national population program of genetic carrier screening for reproductive purposes. How should it be continued?
Zlotogora J
Israel Journal of Health Policy Research, 2019
Biotinidase deficiency: A treatable cause of opticospinal syndrome in young adults✰.
Van Iseghem V et al.
Multiple Sclerosis and Related Disorders, 2019
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
Biotinidase deficiency: Genotype-biochemical phenotype association in Brazilian patients.
Borsatto T et al.
Plos One, 2017
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink RC et al.
European Journal of Human Genetics : Ejhg, 2016
Detection of biotinidase gene mutations in Turkish patients ascertained by newborn and family screening.
Karaca M et al.
European Journal of Pediatrics, 2015
Biotinidase deficiency: clinical and genetic studies of 38 Brazilian patients.
Borsatto T et al.
Bmc Medical Genetics, 2014
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
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
The identification of novel mutations in the biotinidase gene using denaturing high pressure liquid chromatography (dHPLC).
Iqbal F et al.
Molecular Genetics and Metabolism, 2010
Newborn screening for biotinidase deficiency in Brazil: biochemical and molecular characterizations.
Neto EC et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologica, 2004
Mutations in BTD causing biotinidase deficiency.
Hymes J et al.
Human Mutation, 2001
Novel mutations cause biotinidase deficiency in Turkish children.
Pomponio RJ et al.
Journal of Inherited Metabolic Disease, 2000
Profound biotinidase deficiency caused by a point mutation that creates a downstream cryptic 3' splice acceptor site within an exon of the human biotinidase gene.
Pomponio RJ et al.
Human Molecular Genetics, 1997