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Molecular Genetics and Metabolism Reports|July 20, 2018
Hyperphosphatasia with mental retardation syndrome, expanded phenotype of PIGL related disordersRuqaiah Altassan, Stephanie Fox, Chantal Poulin, et al.
European Journal of Medical Genetics|January 13, 2018
A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduriaRuqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, et al.
Saudi Medical Journal|April 22, 2014
Temporary central line related thrombosis in a pediatric intensive care unit in central Saudi Arabia. Two-year incidence and risk factorsRuqaiah AlTassan, Hala Al Alem, Talal Al Harbi
Molecular Genetics and Metabolism|July 24, 2025
Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 casesRuqaiah Altassan, Sarah K Aldhahri, Georgia Macdonald, et al.
JIMD Reports|March 6, 2023
Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG)Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, et al.
Molecular Genetics and Metabolism|December 13, 2017
Renal involvement in PMM2-CDG, a mini-reviewRuqaiah Altassan, Peter Witters, Zubaida Saifudeen, et al.
Molecular Genetics and Metabolism|August 30, 2023
Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 casesRuqaiah Altassan, Michael M Allers, Diederik De Graef, et al.
Genes|December 23, 2022
Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in DNM1Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics|November 13, 2023
Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directionsKarthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, et al.
Orphanet Journal of Rare Diseases|November 19, 2025
Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomesRaashda A Sulaiman, Ruqaiah Altassan, Randa Alshammari, et al.
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