Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

Identification and Characterization of BTD Gene Mutations in Jordanian Children with Biotinidase Deficiency

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 incl...

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Bibliographic Details
Main Authors: Laith N. AL-Eitan, Kifah Alqa’qa’, Wajdi Amayreh, Rame Khasawneh, Hanan Aljamal, Mamoon Al-Abed, Yazan Haddad, Tamara Rawashdeh, Zaher Jaradat, Hazem Haddad
Format: Article
Language:English
Published: MDPI AG 2020-01-01
Series:Journal of Personalized Medicine
Subjects:
biotinidase deficiency
<i>btd</i>
jordan
enzyme assay
familial study
genetics
Online Access:https://www.mdpi.com/2075-4426/10/1/4

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