Associated Papers
PGM3 insufficiency: a glycosylation disorder causing a notable T cell defect.
Yang L et al.
Frontiers in Immunology, 2024
Heterozygous PGM3 Variants Are Associated With Idiopathic Focal Epilepsy With Incomplete Penetrance.
Liu XR et al.
Frontiers in Genetics, 2020
A Novel PGM3 Mutation Is Associated With a Severe Phenotype of Bone Marrow Failure, Severe Combined Immunodeficiency, Skeletal Dysplasia, and Congenital Malformations.
Pacheco-Cuéllar G et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2017
Autosomal recessive phosphoglucomutase 3 (PGM3) mutations link glycosylation defects to atopy, immune deficiency, autoimmunity, and neurocognitive impairment.
Zhang Y et al.
The Journal of Allergy and Clinical Immunology, 2014
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