Associated Papers
Genetic Microcephaly in a Saudi Population: Unique Spectrum of Affected Genes Including a Novel One.
Alrifai MT et al.
Journal of Child Neurology, 2024
Utility of AlphaMissense predictions in Asparagine Synthetase deficiency variant classification.
Staklinski SJ et al.
Biorxiv : the Preprint Server for Biology, 2023
Asparagine Synthetase Deficiency with Intracranial Hemorrhage Can Mimic Molybdenum Cofactor Deficiency.
Abdel-Salam GMH et al.
Neuropediatrics, 2021
A novel compound heterozygous missense mutation in ASNS broadens the spectrum of asparagine synthetase deficiency.
Wang C et al.
Molecular Genetics & Genomic Medicine, 2020
Novel Mutations in the Asparagine Synthetase Gene (ASNS) Associated With Microcephaly.
Schleinitz D et al.
Frontiers in Genetics, 2018
Asparagine Synthetase deficiency-report of a novel mutation and review of literature.
Gupta N et al.
Metabolic Brain Disease, 2017
Diaphragmatic Eventration in Sisters with Asparagine Synthetase Deficiency: A Novel Homozygous ASNS Mutation and Expanded Phenotype.
Sun J et al.
Jimd Reports, 2017
Thirteen year retrospective review of the spectrum of inborn errors of metabolism presenting in a tertiary center in Saudi Arabia.
Alfadhel M et al.
Orphanet Journal of Rare Diseases, 2016
Worsening of Seizures After Asparagine Supplementation in a Child with Asparagine Synthetase Deficiency.
Alrifai MT et al.
Pediatric Neurology, 2016
Asparagine Synthetase Deficiency: New Inborn Errors of Metabolism.
Alfadhel M et al.
Jimd Reports, 2015
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