A Unique Comprehensive Model to Screen Newborns for Severe Combined Immunodeficiency-An Ontario Single-Centre Experience Spanning 2013-2023.

Abdulrahman Al GhamdiJessica Willett PachulAzhar Al ShaqaqMeghan FraserAbby Watts-DickensNicole YangLinda VongVy H D KimVictoria Mok SiuAnne Pham-HuyRae BragerBrenda ReidChaim M Roifman

Published in: Genes (2024)

This is the first report of NBS outcomes in a Canadian province describing the causative genetic defects, and the non-SCID causes of a positive NBS for SCID.

Keyphrases

south africa
pregnant women
high throughput
genome wide
early onset
low birth weight
cord blood
copy number
type diabetes
metabolic syndrome
insulin resistance
glycemic control
preterm birth