Associated Papers
Causes of mortality in the congenital disorders of glycosylation.
Alharbi H et al.
Molecular Genetics and Metabolism, 2025
Spontaneous improvement of carbohydrate-deficient transferrin in PMM2-CDG without mannose observed in CDG natural history study.
Witters P et al.
Orphanet Journal of Rare Diseases, 2021
33632285 (PubMed )
Supplement: 13023_2021_1751_MOESM1_ESM.xlsx › Raw_data
Vascular ring anomaly in a patient with phosphomannomutase 2 deficiency: A case report and review of the literature.
Qian Z et al.
Jimd Reports, 2020
Nonimmune hydrops fetalis and congenital disorders of glycosylation: A systematic literature review.
Makhamreh MM et al.
Journal of Inherited Metabolic Disease, 2020
Congenital disorder of glycosylation type Ia presenting with hydrops fetalis.
van de Kamp JM et al.
Journal of Medical Genetics, 2007
Should PMM2-deficiency (CDG Ia) be searched in every case of unexplained hydrops fetalis?
Léticée N et al.
Molecular Genetics and Metabolism, 0
Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future.
Edmondson AC et al.
Molecular Genetics and Metabolism, 0
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