Results 131 to 140 of about 4,129 (176)

A Novel N-Tetrasaccharide in Patients with Congenital Disorders of Glycosylation, Including Asparagine-Linked Glycosylation Protein 1, Phosphomannomutase 2, and Mannose Phosphate Isomerase Deficiencies. [PDF]

open access: yesClin Chem, 2016
Zhang W   +16 more
europepmc   +1 more source

Impact of COVID-19 infection in patients with inherited metabolic diseases: a National Multicenter Study from the French IMDs Healthcare Network for Rare Diseases. [PDF]

open access: yesOrphanet J Rare Dis
Douillard C   +24 more
europepmc   +1 more source

Incidence and prevalence of phosphomannomutase 2-congenital disorder of glycosylation: Past, present, and future

open access: yesMolecular Genetics and Metabolism
Andrew C. Edmondson   +5 more
openaire   +1 more source

Immunopathology in PMM2-CDG: Defective glycosylation impact in the TNFα -TNFR1 signalling pathway. [PDF]

open access: yesFront Immunol
Pascoal C   +12 more
europepmc   +1 more source

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