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J Inherit Metab Dis. 2003;26(1):83-5.

Congenital disorder of glycosylation Ib (CDG-Ib) without gastrointestinal symptoms.

Author information

1
Unit of Metabolic Diseases, Department of Pediatrics, Lille University Children's Hospital, Lille, France.

Abstract

We report a 7-year-old girl with hyperinsulinaemic hypoglycaemia and hepatomegaly due to congenital disorder of glycosylation (CDG) Ib without gastrointestinal symptoms. Oral mannose therapy produced clinical and biochemical normalization after 2 years of treatment.

PMID:
12872847
DOI:
10.1023/a:1024044017385
[Indexed for MEDLINE]

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