Fathiya M. Murshedi-Al

Muscat, MA, Oman

Last Updated: 09/26/2026

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Found 37 publications

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.

Biallelic XPR1 Variants Are Linked to Brain Calcifications, Developmental Delay, Hypophosphatemia, and Cardiopulmonary Phenotype.

Journal: Clinical genetics

Published: January 30, 2026

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Neuroimaging Findings in Carbonic Anhydrase VA Deficiency: A Case Series Highlighting Diagnostic and Prognostic Patterns in a Potentially Reversible Mitochondrial Dysfunction.

Journal: AJNR. American journal of neuroradiology

Published: June 12, 2025

Transient response to high-dose niacin therapy in a patient with NAXE deficiency.

Transient response to high-dose niacin therapy in a patient with NAXE deficiency.

Journal: JIMD reports

Published: February 02, 2024

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

A founder mutation in CA5A causing intrafamilial and interfamilial phenotypic variability in a cohort of 18 patients with carbonic anhydrase VA deficiency.

Journal: JIMD reports

Published: January 21, 2024

SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.

SIRT5 variants from patients with mitochondrial disease are associated with reduced SIRT5 stability and activity, but not with neuropathology.

Journal: bioRxiv : the preprint server for biology

Published: December 18, 2023

Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.

Human SIRT5 variants with reduced stability and activity do not cause neuropathology in mice.

Journal: iScience

Published: November 29, 2023

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.

Expanding the clinical spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency: novel PCK1 variants in four Arabian Gulf families.

Journal: Orphanet journal of rare diseases

Published: June 13, 2023

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Biallelic variants in the synaptic vesicle glycoprotein 2 A are associated with epileptic encephalopathy.

Journal: European journal of human genetics : EJHG

Published: June 05, 2023

Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

Domino liver transplantation for maple syrup urine disease in children: A single-center case series.

Journal: Pediatric transplantation

Published: May 02, 2023

Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.

Author Correction: PCYT2-regulated lipid biosynthesis is critical to muscle health and ageing.

Journal: Nature metabolism

Published: April 06, 2023

Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.

Very long-chain acyl-CoA dehydrogenase deficiency and type I diabetes mellitus: Case report and management challenges.

Journal: Clinical biochemistry

Published: December 03, 2022

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Inactivation of DRG1, encoding a translation factor GTPase, causes a recessive neurodevelopmental disorder.

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: October 11, 2022

Showing 1-12 of 37

Last Updated: 09/26/2026