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
Neurodevelopmental and Behavioral Phenotypes in 14q11.2 Microduplication Syndrome: A Case Report and Literature Review.
Williams JM et al.
Cureus, 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
Characterization of 35 Novel NR5A1/SF-1 Variants Identified in Individuals With Atypical Sexual Development: The SF1next Study.
Naamneh Elzenaty R et al.
The Journal of Clinical Endocrinology and Metabolism, 2025
Estimation of carrier frequencies of autosomal and X-linked recessive genetic conditions based on gnomAD v4.0 data in different ancestries.
Hotakainen R et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
NR5A1/SF-1 Collaborates with Inhibin α and the Androgen Receptor.
Naamneh Elzenaty R et al.
International Journal of Molecular Sciences, 2024
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
Determination of Carrier Frequency of Actionable Pathogenic Variants in Autosomal Recessive Genetic Diseases in the Turkish Cypriot Population.
Gunsel AS et al.
Genes, 2023
Evaluation of 700 patients referred with a preliminary diagnosis of biotinidase deficiency by the national newborn metabolic screening program: a single-center experience.
Erdol S et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2023
Investigating the genetic contribution in febrile infection-related epilepsy syndrome and refractory status epilepticus.
deCampo D et al.
Frontiers in Neurology, 2023
Atopic Dermatitis-like Genodermatosis: Disease Diagnosis and Management.
Pan C et al.
Diagnostics (basel, Switzerland), 2022
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways.
Young WJ et al.
Nature Communications, 2022
High Incidence of Partial Biotinidase Deficiency in the First 3 Years of a Regional Newborn Screening Program in Italy.
Semeraro D et al.
International Journal of Environmental Research and Public Health, 2022
Recovery of enzyme activity in biotinidase deficient individuals during early childhood.
Forny P et al.
Journal of Inherited Metabolic Disease, 2022
Identification of clinically actionable secondary genetic variants from whole-genome sequencing in a large-scale Chinese population.
Cong PK et al.
Clinical and Translational Medicine, 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
The QChip1 knowledgebase and microarray for precision medicine in Qatar.
Rodriguez-Flores JL et al.
Npj Genomic Medicine, 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
Clinical, biochemical and genotypical characteristics in biotinidase deficiency.
Akgun A et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
BTD Gene Mutations in Biotinidase Deficiency: Genotype-Phenotype Correlation.
Oz O et al.
Journal of the College of Physicians and Surgeons--pakistan : Jcpsp, 2021
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
Partial Biotinidase Deficiency Revealed Imbalances in Acylcarnitines Profile at Tandem Mass Spectrometry Newborn Screening.
Cicalini I et al.
International Journal of Environmental Research and Public Health, 2021
Evaluation of the efficiency of serum biotinidase activity as a newborn screening test in Turkey.
Ercan M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2021
Newborn Screening for Biotinidase Deficiency. The Experience of a Regional Center in Italy.
Maguolo A et al.
Frontiers in Pediatrics, 2021
Autism spectrum disorder in patients with inherited metabolic disorders-a large sample from a tertiary center.
Yoldaş TÇ et al.
The Turkish Journal of Pediatrics, 2021
High frequency of biotinidase deficiency in Italian population identified by newborn screening.
Funghini S et al.
Molecular Genetics and Metabolism Reports, 2020
Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.
Kaseniit KE et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
The novel homozygous p.Asn197_Ser201del mutation in BTD gene is associated with profound biotinidase deficiency in an Iranian consanguineous family.
Torkamandi S et al.
Molecular Biology Reports, 2020
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
Tan J et al.
Ebiomedicine, 2020
Genotype-phenotype analysis of 523 patients by genetics evaluation and clinical exome sequencing.
Ziats MN et al.
Pediatric Research, 2020
Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency.
Al-Eitan LN et al.
Journal of Personalized Medicine, 2020
Effect of BTD gene variants on in vitro biotinidase activity.
Borsatto T et al.
Molecular Genetics and Metabolism, 2019
Novel mutations causing biotinidase deficiency in individuals identified by the newborn screening program in Minas Gerais, Brazil.
Carvalho NO et al.
American Journal of Medical Genetics. Part A, 2019
Clinical findings and genetic analysis of the patients with IL-12Rβ1 deficiency from southeast Turkey.
Doğruel D et al.
The Turkish Journal of Pediatrics, 2019
Updated recommendation for the benign stand-alone ACMG/AMP criterion.
Ghosh R et al.
Human Mutation, 2018
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Twenty-seven mutations with three novel pathologenic variants causing biotinidase deficiency: a report of 203 patients from the southeastern part of Turkey.
Seker Yilmaz B 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
Coexistence of 2 rare autosomal recessively inherited disorders manifesting with immune deficiency; IL-12 receptor β1 and biotinidase deficiencies.
Doğruel D et al.
The Turkish Journal of Pediatrics, 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
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
Neonatal screening for profound biotinidase deficiency in the Netherlands: consequences and considerations.
Wiltink RC et al.
European Journal of Human Genetics : Ejhg, 2016
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 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