Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency
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DOI: 10.3390/jpm10010004
Abstract: Biotinidase deficiency is an autosomal recessive metabolic disorder whose diagnosis currently depends on clinical symptoms and a biotinidase enzyme assay. This study aimed to investigate the mutational status and enzymatic activity of biotinidase deficiency in… read more here.
Keywords: biotinidase deficiency; mutations jordanian; biotinidase; identification characterization ... See more keywords