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
38968673 (PubMed )
Supplement: NIHMS2125712-supplement-Supplementary_material.xlsx › Sup_Tab_1
Hereditary Hypertrophic Cardiomyopathy in Children and Young Adults-The Value of Reevaluating and Expanding Gene Panel Analyses.
Fernlund E et al.
Genes, 2020
A missense variant remote from the active site impairs stability of human phosphoglucomutase 1.
Stiers KM et al.
Journal of Inherited Metabolic Disease, 2020
The congenital disorder of glycosylation in PGM1 (PGM1-CDG) can cause severe cardiomyopathy and unexpected sudden cardiac death in childhood.
Fernlund E et al.
Forensic Science International. Genetics, 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
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
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