Associated Papers
ACMG-Recommended Actionable Secondary Findings from 1600 Clinical Exomes in the South Marmara Region in Turkiye.
Temel SG et al.
International Journal of Molecular Sciences, 2026
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
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
Identification of the mutations in BTD gene in Iranian patients with biotinidase deficiency and evaluating their genotype-phenotype correlations.
Azizinejad F et al.
Gene, 2025
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
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
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
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A et al.
Frontiers in Pediatrics, 2021
Frequency of biotinidase gene variants and incidence of biotinidase deficiency in the Newborn Screening Program in Minas Gerais, Brazil.
Carvalho NO et al.
Journal of Medical Screening, 2020
Performance of Expanded Newborn Screening in Norway Supported by Post-Analytical Bioinformatics Tools and Rapid Second-Tier DNA Analyses.
Tangeraas T et al.
International Journal of Neonatal Screening, 2020
Adult-onset biotinidase deficiency: two individuals with severe, but reversible optic neuropathy.
Deschamps R et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2018
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Clinical features, BTD gene mutations, and their functional studies of eight symptomatic patients with biotinidase deficiency from Southern China.
Liu Z et al.
American Journal of Medical Genetics. Part A, 2018
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
Clinical utility gene card for: Biotinidase deficiency-update 2015.
Küry S et al.
European Journal of Human Genetics : Ejhg, 2016
Forty-eight novel mutations causing biotinidase deficiency.
Procter M et al.
Molecular Genetics and Metabolism, 2016
Inborn Errors of Metabolism in the United Arab Emirates: Disorders Detected by Newborn Screening (2011-2014).
Al-Jasmi FA et al.
Jimd Reports, 2016
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
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
Increased incidence of profound biotinidase deficiency among Hispanic newborns in California.
Cowan TM et al.
Molecular Genetics and Metabolism, 2012
Clinical utility gene card for: biotinidase deficiency.
Küry S et al.
European Journal of Human Genetics : Ejhg, 2012
Profound biotinidase deficiency: a rare disease among native Swedes.
Ohlsson A et al.
Journal of Inherited Metabolic Disease, 2010
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
Mutations causing biotinidase deficiency in children ascertained by newborn screening in Western Hungary.
Milánkovics I et al.
Molecular Genetics and Metabolism, 2007
Neonatal screening for biotinidase deficiency in Hungary: clinical, biochemical and molecular studies.
László A et al.
Journal of Inherited Metabolic Disease, 2003
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
Partial biotinidase deficiency is usually due to the D444H mutation in the biotinidase gene.
Swango KL et al.
Human Genetics, 1998
Mutation (Q456H) is the most common cause of profound biotinidase deficiency in children ascertained by newborn screening in the United States.
Norrgard KJ et al.
Biochemical and Molecular Medicine, 1997
Fine mapping of the human biotinidase gene and haplotype analysis of five common mutations.
Blanton SH et al.
Human Heredity, 0
[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