A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria

R AlTassan, D Bubshait, F Imtiaz, Z Rahbeeni - European Journal of …, 2018 - Elsevier
A retrospective review was compiled of 54 patients with argininosuccinic aciduria who were
either identified through the Saudi National Newborn Screening Program or diagnosed
clinically from January 2000 to December 2015. The duration of follow-up is from 2 to 19
years. The majority of patients (65%) originated from the central province of Saudi Arabia.
The mean patient age at review was 10 years (2–19 years), 92% received an early
diagnosis (< 28 days of age) and most were symptomatic at the time of the diagnosis (n …