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International Journal of Molecular Sciences|June 13, 2025
A Report of a Child with SEC31A-Related Neurodevelopmental DisorderRuqaiah AlTassan, Hanan AlQudairy, Biam Saydo, et al.JIMD Reports|February 20, 2020
Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patientsHossein Moravej, Ruqaiah Altassan, Jaak Jaeken, et al.Metabolites|October 30, 2019
Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial DiseaseMatthew J Bird, Isabelle Adant, Petra Windmolders, et al.Journal of Clinical Medicine|July 9, 2020
New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric ApproachRita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, et al.Translational Research : the Journal of Laboratory and Clinical Medicine|January 29, 2023
AAV-based gene therapy prevents and halts the progression of dilated cardiomyopathy in a mouse model of phosphoglucomutase 1 deficiency (PGM1-CDG)Bijina Balakrishnan, Ruqaiah Altassan, Rohit Budhraja, et al.American Journal of Medical Genetics. Part A|October 23, 2018
Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern originAmeera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, et al.American Journal of Medical Genetics. Part A|December 22, 2023
Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophyRuqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|October 9, 2018
Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?Peter Witters, Tomas Honzik, Eric Bauchart, et al.Molecular Genetics and Metabolism|May 4, 2024
ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelinesRameen Shah, Erik A Eklund, Silvia Radenkovic, et al.American Journal of Medical Genetics. Part A|July 21, 2022
Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndromeRuqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, et al.Pageof 3