Associated Papers
Computational studies on the functional and structural impact of pathogenic mutations in enzymes.
Dissanayake UC et al.
Protein Science : a Publication of the Protein Society, 2025
Coagulation abnormalities and vascular complications are common in PGM1-CDG.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2024
The etiology of rhabdomyolysis: an interaction between genetic susceptibility and external triggers.
Kruijt N et al.
European Journal of Neurology, 2021
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Stiers KM et al.
Journal of Inherited Metabolic Disease, 2020
N-Glycosylation influences human corticosteroid-binding globulin measurements.
Hill LA et al.
Endocrine Connections, 2019
Congenital disorder of glycosylation type 1T with a novel truncated homozygous mutation in PGM1 gene and literature review.
Tian WT et al.
Neuromuscular Disorders : Nmd, 2019
Central nervous involvement is common in PGM1-CDG.
Radenkovic S et al.
Molecular Genetics and Metabolism, 2018
Intact transferrin and total plasma glycoprofiling for diagnosis and therapy monitoring in phosphoglucomutase-I deficiency.
Abu Bakar N et al.
Translational Research : the Journal of Laboratory and Clinical Medicine, 2018
Oral D-galactose supplementation in PGM1-CDG.
Wong SY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
Impaired glycogen breakdown and synthesis in phosphoglucomutase 1 deficiency.
Preisler N et al.
Molecular Genetics and Metabolism, 2017
PGM1 deficiency: Substrate use during exercise and effect of treatment with galactose.
Voermans NC et al.
Neuromuscular Disorders : Nmd, 2017
Sequence-structure relationships, expression profiles, and disease-associated mutations in the paralogs of phosphoglucomutase 1.
Muenks AG et al.
Plos One, 2017
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
Induced Structural Disorder as a Molecular Mechanism for Enzyme Dysfunction in Phosphoglucomutase 1 Deficiency.
Stiers KM et al.
Journal of Molecular Biology, 2016