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ALLMedicine™ B4galt1-cdg Center

Research & Reviews  2 results

Reduced CETP glycosylation and activity in patients with homozygous B4GALT1 mutations.
Journal of Inherited Metabolic Disease; van den Boogert MAW, Crunelle CL et. al.

Dec 5th, 2019 - The importance of protein glycosylation in regulating lipid metabolism is becoming increasingly apparent. We set out to further investigate this by studying the effects of defective glycosylation on plasma lipids in patients with B4GALT1-CDG, caus...


Dec 1st, 2006 - The following summary is from Orphanet, a European reference portal for information on rare diseases and orphan drugs. Orpha Number: 79332 Definition B4GALT1-CDG is a congenital disorder of glycosylation characterised by macrocephaly due to Dandy-...

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