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

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 neurore...

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Main Authors: Alfadhel, Majid, Umair, Muhammad, Almuzzaini, Bader, Alsaif, Saif, AlMohaimeed, Sulaiman A., Almashary, Maher A., Alharbi, Wardah, Alayyar, Latifah, Alasiri, Abdulrahman, Ballow, Mariam, AlAbdulrahman, Abdulkareem, Alaujan, Monira, Nashabat, Marwan, Al‐Odaib, Ali, Altwaijri, Waleed, Al‐Rumayyan, Ahmed, Alrifai, Muhammad T., Alfares, Ahmed, AlBalwi, Mohammed, Tabarki, Brahim
Format: Text
Language:English
Published: John Wiley and Sons Inc. 2019
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Research Articles
Online Access:https://pmc.ncbi.nlm.nih.gov/articles/PMC6801173/
https://pubmed.ncbi.nlm.nih.gov/31557427
http://dx.doi.org/10.1002/acn3.50898
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https://pmc.ncbi.nlm.nih.gov/articles/PMC6801173/
https://pubmed.ncbi.nlm.nih.gov/31557427
http://dx.doi.org/10.1002/acn3.50898

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