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Duodecim ; 132(3): 253-9, 2016.
Artículo en Finés | MEDLINE | ID: mdl-26951030

RESUMEN

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.


Asunto(s)
Trastornos Congénitos de Glicosilación/diagnóstico , Fosfotransferasas (Fosfomutasas)/deficiencia , Cromosomas Humanos Par 16 , Trastornos Congénitos de Glicosilación/genética , Trastornos Congénitos de Glicosilación/terapia , Humanos , Mutación , Fosfotransferasas (Fosfomutasas)/genética
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