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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Detalles Bibliográficos
Autores principales: AL-Eitan, Laith N., Alqa’qa’, Kifah, Amayreh, Wajdi, Khasawneh, Rame, Aljamal, Hanan, Al-Abed, Mamoon, Haddad, Yazan, Rawashdeh, Tamara, Jaradat, Zaher, Haddad, Hazem
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151559/
https://www.ncbi.nlm.nih.gov/pubmed/31973013
http://dx.doi.org/10.3390/jpm10010004

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7151559/
https://www.ncbi.nlm.nih.gov/pubmed/31973013
http://dx.doi.org/10.3390/jpm10010004

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