Factor XII in PMM2-CDG patients: role of N-glycosylation in the secretion and function of the first element of the contact pathway
Sign Up to like & getrecommendations! Published in 2020 at "Orphanet Journal of Rare Diseases"
DOI: 10.1186/s13023-020-01564-9
Abstract: Background Congenital disorders of glycosylation (CDG) are rare diseases with impaired glycosylation and multiorgan disfunction, including hemostatic and inflammatory disorders. Factor XII (FXII), the first element of the contact phase, has an emerging role in… read more here.
Keywords: cdg patients; secretion; glycosylation; pmm2 cdg ... See more keywords
Coagulation abnormalities in a prospective cohort of 50 patients with PMM2-congenital disorder of glycosylation.
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DOI: 10.2139/ssrn.4370624
Abstract: BACKGROUND Given the lack of reliable data on the prevalence of bleeding abnormalities and thrombotic episodes in PMM2-CDG patients, and whether coagulation abnormalities change over time, we prospectively collected and reviewed natural history data. Patients… read more here.
Keywords: time; pmm2 cdg; activity; cdg patients ... See more keywords