Associated Papers
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
Whole-Exome Sequencing Reveals a Missense Variant c.1612C>T (p.Arg538Cys) in the BTD Gene Leading to Neuromyelitis Optica Spectrum Disorder in Saudi Families.
Naseer MI et al.
Frontiers in Pediatrics, 2021
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