Associated Papers
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
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
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
Muscle glycogenosis due to phosphoglucomutase 1 deficiency.
Stojkovic T et al.
The New England Journal of Medicine, 2009
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