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
A Rare Biotinidase Deficiency in the Pediatrics Population: Genotype-Phenotype Analysis.
Kannan B et al.
Journal of Pediatric Genetics, 2023
Two novel BTD mutations causing profound biotinidase deficiency in a Chinese patient.
Geng J et al.
Molecular Genetics & Genomic Medicine, 2021
Single center experience of biotinidase deficiency: 259 patients and six novel mutations.
Canda E et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
Biotinidase deficiency should be considered in individuals exhibiting myelopathy with or without and vision loss.
Wolf B
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 presenting as recurrent myelopathy in a 7-year-old boy and a review of the literature.
Raha S et al.
Pediatric Neurology, 2011
Analysis of mutations causing biotinidase deficiency.
Pindolia K et al.
Human Mutation, 2010
Diagnosis, treatment, follow-up and gene mutation analysis in four Chinese children with biotinidase deficiency.
Ye J et al.
Journal of Inherited Metabolic Disease, 2009
[Gene mutation analyses in Chinese children with multiple carboxylase deficiency].
Wang T et al.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2009
[Diagnosis, treatment and gene mutation analysis in children with holocarboxylase synthetas deficiency].
Wang T et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2009
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
Novel mutations cause biotinidase deficiency in Turkish children.
Pomponio RJ et al.
Journal of Inherited Metabolic Disease, 2000
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