Targeted SLC19A3 gene sequencing of 3000 Saudi newborn: a pilot study toward newborn screening-Reference-Cited by-同舟云学术

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

Published:2019-09-26 Issue:10 Volume:6 Page:2097-2103
ISSN:2328-9503
Container-title:Annals of Clinical and Translational Neurology
language:en
Short-container-title:Ann Clin Transl Neurol

Author:

Alfadhel Majid¹²³,Umair Muhammad²³^ORCID,Almuzzaini Bader²,Alsaif Saif³⁴,AlMohaimeed Sulaiman A.⁵,Almashary Maher A.⁵,Alharbi Wardah²,Alayyar Latifah²,Alasiri Abdulrahman²,Ballow Mariam²,AlAbdulrahman Abdulkareem²,Alaujan Monira²,Nashabat Marwan¹,Al‐Odaib Ali⁶⁷,Altwaijri Waleed³⁸,Al‐Rumayyan Ahmed³,Alrifai Muhammad T.³,Alfares Ahmed⁹¹⁰,AlBalwi Mohammed²³⁹,Tabarki Brahim¹¹

Affiliation:

1. Division of Genetics Department of Pediatrics King Abdullah specialized Children’s Hospital King Abdulaziz Medical City Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

2. Medical Genomics Research Department King Abdullah International Medical Research Center (KAIMRC) Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

3. King Saud Bin Abdulaziz University for Health Sciences Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

4. Department of Neonatology King Abdulaziz Medical City Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

5. Pediatric Intensive Care Unit Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia

6. Department of Genetics King Faisal Specialist Hospital and Research Centre Riyadh Saudi Arabia

7. King Salman Center for Disability Research Riyadh Saudi Arabia

8. Division of Pediatric Neurology Department of Pediatrics King Abdullah Specialized Children Hospital King Abdulaziz Medical City Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

9. Department of Pathology and Laboratory Medicine King Abdulaziz Medical City Ministry of National Guard‐Health Affairs (MNGHA) Riyadh Saudi Arabia

10. Department of Pediatrics Qassim University Almulyda, Buraydah Saudi Arabia

11. Division of Pediatric Neurology Department of Pediatrics Prince Sultan Military Medical City Riyadh Saudi Arabia

Publisher

Wiley

Subject

Clinical Neurology,General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/acn3.50898

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1. Biotin-responsive basal ganglia disease-linked mutations inhibit thiamine transport via hTHTR2: biotin is not a substrate for hTHTR2

2. SLC19: the folate/thiamine transporter family