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Article

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

European journal of medical genetics - 1 Jun 2018

AlTassan Ruqaiah, Bubshait Dalal, Imtiaz Faiqa, Rahbeeni Zuhair

Abstract excerpt

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),...

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Identifiers

PMID: 29326055
DOI: 10.1016/j.ejmg.2018.01.007

Genes

ASL

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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