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Duodecim. 2016;132(3):253-9.

[Congenital disorder of glycosylation type Ia (CDG Ia) - underdiagnosed entity?].

[Article in Finnish]

Abstract

Congenital disorders of glycosylation (CDG) are a relatively recently identified group of multisystem disorders caused by defective glycosylation of N-glycosylated proteins. They mainly involve the central and peripheral nervous system, but other organ systems are involved as well. Type CDG Ia accounts for over 80% of cases, characterized by decreased activity of the enzyme phosphomannomutase caused by mutations in chromosome 16 PMM2 gene. Treatment of CDG Ia remains symptomatic.

PMID:
26951030
[Indexed for MEDLINE]

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