Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening

Abstract Background Biotin–thiamine‐responsive basal ganglia disease (BTBGD) is an autosomal recessive neurometabolic disorder mostly presented in children. The disorder is described as having subacute encephalopathy with confusion, dystonia, and dysarthria triggered by febrile illness that leads to...

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Main Authors: Majid Alfadhel, Muhammad Umair, Bader Almuzzaini, Saif Alsaif, Sulaiman A. AlMohaimeed, Maher A. Almashary, Wardah Alharbi, Latifah Alayyar, Abdulrahman Alasiri, Mariam Ballow, Abdulkareem AlAbdulrahman, Monira Alaujan, Marwan Nashabat, Ali Al‐Odaib, Waleed Altwaijri, Ahmed Al‐Rumayyan, Muhammad T. Alrifai, Ahmed Alfares, Mohammed AlBalwi, Brahim Tabarki
Format: Article
Language:English
Published: Wiley 2019-10-01
Series:Annals of Clinical and Translational Neurology
Online Access:https://doi.org/10.1002/acn3.50898

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