Associated Papers
Comparative genetic analysis of blood and semen samples in sperm donors from Hunan, China.
Huang C et al.
Annals of Medicine, 2025
39757988 (PubMed )
Supplement: IANN_A_2447421_SM2148.zip › suppl_data › Table_S3.xlsx › Table_S3
Genetic Variants Affect Distinct Metabolic Pathways in Pediatric Multisystem Inflammatory Syndrome and Severe COVID-19.
Urbanski AH et al.
Journal of Medical Virology, 2025
40817859 (PubMed )
Supplement: JMV-97-e70556-s002.docx
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
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
Clinical and molecular genetic characterization of two patients with mutations in the phosphoglucomutase 1 (PGM1) gene.
Ding Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 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
Defining the Phenotype and Assessing Severity in Phosphoglucomutase-1 Deficiency.
Wong SY et al.
The Journal of Pediatrics, 2016
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