A form of congenital disorders of N-linked glycosylation that is characterised by gastrointestinal symptoms (diarrhoea, vomiting, feeding problems with failure to thrive, protein-losing enteropathy), oedema and ascites (including hydrops fetalis), he

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'asparagine-linked' congenitaal defect in glycosylering type 1H

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A form of congenital disorders of N-linked glycosylation with characteristics of poorly coordinated suck resulting in difficulty feeding and failure to thrive; myoclonic jerks with hypotonia and brisk reflexes progressing to a seizure disorder; rovin

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congenitaal defect in glycosylering type In

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Date index: 2022-09-29