Publications by authors named "Ruqaiah AlTassan"

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Cerebral edema in maple syrup urine disease: spectrum of clinical presentation and treatment outcomes.
Raashda A Sulaiman, Ruqaiah Altassan, Randa Alshammari, Moeenaldeen Alsayed, Aamir N Sheikh

Orphanet J Rare Dis· November 2025

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Phenotypic and genotypic description of GMPPA-congenital disorder of glycosylation: A review of 26 cases.
Ruqaiah Altassan, Sarah K Aldhahri, Georgia Macdonald, Rameen Shah, Eva Morava

Mol Genet Metab· October 2025

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A Report of a Child with SEC31A-Related Neurodevelopmental Disorder.
Ruqaiah AlTassan, Hanan AlQudairy, Biam Saydo, Aseel Alammari, Kelly J Cardona Londoño

Int J Mol Sci· May 2025

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ALG13-Congenital Disorder of Glycosylation (ALG13-CDG): Updated clinical and molecular review and clinical management guidelines.
Rameen Shah, Erik A Eklund, Silvia Radenkovic, Mustafa Sadek, Ibrahim Shammas, Ruqaiah Altassan

Mol Genet Metab· June 2024

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Expanding the phenotypic and genotypic spectrum of GGPS1 related congenital muscular dystrophy.
Ruqaiah Altassan, Hanan AlQudairy, Sarah AlJebreen, Mohammed AlMuhaizea, Hindi Al-Hindi

Am J Med Genet A· April 2024

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Neurological manifestations in PMM2-congenital disorders of glycosylation (PMM2-CDG): Insights into clinico-radiological characteristics, recommendations for follow-up, and future directions.
Karthik Muthusamy, Judit M Perez-Ortiz, Anna N Ligezka, Ruqaiah Altassan, Christin Johnsen

Genet Med· February 2024

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Defining the phenotype of PGAP3-congenital disorder of glycosylation; a review of 65 cases.
Ruqaiah Altassan, Michael M Allers, Diederik De Graef, Rameen Shah, Maaike de Vries

Mol Genet Metab· November 2023

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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, Willisa Liou, Arielle Lupo

Transl Res· July 2023

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Successful heart transplantation in an infant with phosphoglucomutase 1 deficiency (PGM1-CDG).
Ruqaiah Altassan, Dimpna C Albert-Brotons, Mohammad Alowain, Zohair Al-Halees, Jaak Jaeken

JIMD Rep· March 2023

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COVID-19 in Unvaccinated patients with inherited metabolic disorders: A single center experience.
Ruqaiah Altassan, Raashda A Sulaiman, Abdullah Alfalah, Waad Alwagiat, Eman Megdad

Eur J Med Genet· November 2022

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Clinical, Radiological, and Genetic Characterization of a Patient with a Novel Homoallelic Loss-of-Function Variant in .
Ruqaiah AlTassan, Hanan AlQudairy, Rakan Alromayan, Abdullah Alfalah, Omar A AlHarbi

Genes (Basel)· November 2022

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Further delineation of GEMIN4 related neurodevelopmental disorder with microcephaly, cataract, and renal abnormalities syndrome.
Ruqaiah Altassan, Ahmad Qudair, Riyadh Alokaili, Khalid Alhasan, Eissa A Faqeih

Am J Med Genet A· October 2022

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International consensus guidelines for phosphoglucomutase 1 deficiency (PGM1-CDG): Diagnosis, follow-up, and management.
Ruqaiah Altassan, Silvia Radenkovic, Andrew C Edmondson, Rita Barone, Sandra Brasil

J Inherit Metab Dis· January 2021

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Systemic lupus erythematosus in a girl with PTEN variant and transaldolase deficiency: a novel phenotype.
Sulaiman M Al-Mayouf, Ruqaiah S AlTassan, Mohammed A AlOwain

Clin Rheumatol· November 2020

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Consensus guideline for the diagnosis and management of mannose phosphate isomerase-congenital disorder of glycosylation.
Anna Čechová, Ruqaiah Altassan, Delphine Borgel, Arnaud Bruneel, Joana Correia

J Inherit Metab Dis· July 2020

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New Insights into Immunological Involvement in Congenital Disorders of Glycosylation (CDG) from a People-Centric Approach.
Rita Francisco, Carlota Pascoal, Dorinda Marques-da-Silva, Sandra Brasil, Fernando M Pimentel-Santos, Ruqaiah Altassan

J Clin Med· July 2020

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Hypoglycemia in CDG patients due to PMM2 mutations: Follow up on hyperinsulinemic patients.
Hossein Moravej, Ruqaiah Altassan, Jaak Jaeken, Gregory M Enns, Carolyn Ellaway

JIMD Rep· January 2020

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Oxygraphy Versus Enzymology for the Biochemical Diagnosis of Primary Mitochondrial Disease.
Matthew J Bird, Isabelle Adant, Petra Windmolders, Ingrid Vander Elst, Catarina Felgueira, Ruqaiah Altassan

Metabolites· October 2019

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Long-term follow-up in PMM2-CDG: are we ready to start treatment trials?
Peter Witters, Tomas Honzik, Eric Bauchart, Ruqaiah Altassan, Tiffany Pascreau

Genet Med· May 2019

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The Metabolic Map into the Pathomechanism and Treatment of PGM1-CDG.
Silvia Radenkovic, Matthew J Bird, Tim L Emmerzaal, Sunnie Y Wong, Catarina Felgueira, Ruqaiah Altassan

Am J Hum Genet· May 2019

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International clinical guidelines for the management of phosphomannomutase 2-congenital disorders of glycosylation: Diagnosis, treatment and follow up.
Ruqaiah Altassan, Romain Péanne, Jaak Jaeken, Rita Barone, Muad Bidet

J Inherit Metab Dis· January 2019

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Clinical, biochemical, and molecular overview of transaldolase deficiency and evaluation of the endocrine function: Update of 34 patients.
Monique Williams, Vassili Valayannopoulos, Ruqaiah Altassan, Wendy K Chung, Annemieke C Heijboer

J Inherit Metab Dis· January 2019

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Delineating the phenotypic spectrum of hyperphosphatasia with mental retardation syndrome 4 in 14 patients of Middle-Eastern origin.
Ameera Balobaid, Tawfeg Ben-Omran, Khushnooda Ramzan, Ruqaiah Altassan, Mariam Almureikhi

Am J Med Genet A· December 2018

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A retrospective biochemical, molecular, and neurocognitive review of Saudi patients with argininosuccinic aciduria.
Ruqaiah AlTassan, Dalal Bubshait, Faiqa Imtiaz, Zuhair Rahbeeni

Eur J Med Genet· June 2018

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Hyperphosphatasia with mental retardation syndrome, expanded phenotype of related disorders.
Ruqaiah Altassan, Stephanie Fox, Chantal Poulin, Daniela Buhas

Mol Genet Metab Rep· June 2018

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