Ontology highlight
ABSTRACT:
SUBMITTER: Al-Eitan LN
PROVIDER: S-EPMC7151559 | biostudies-literature | 2020 Jan
REPOSITORIES: biostudies-literature
Journal of personalized medicine 20200121 1
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 seven unrelated Jordanian families including 10 patients and 17 healthy family members. Amplified DNA was analyzed by the automated Sanger sequencing method, and the enzymatic assay was performed using a colorimetric assessment. Biotinidas ...[more]