Journal article
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
- Abstract:
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BACKGROUND/AIM: Glucokinase (GCK)-activating mutations cause persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). GCK-PHHI patients have regulated insulin secretion and can usually be treated with diazoxide. The six reported cases suggest that the severity of the mutation predicts the clinical phenotype. The aim of this study was to relate genotype to phenotype [clinical phenotype, glucose-stimulated insulin release (GSIR) and GCK functional analysis] in a large pedigree with eight a...
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- Publication status:
- Published
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- Publisher copy:
- 10.1111/j.1464-5491.2007.02285.x
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Bibliographic Details
- Journal:
- Diabetic medicine : a journal of the British Diabetic Association
- Volume:
- 24
- Issue:
- 12
- Pages:
- 1393-1399
- Publication date:
- 2007-12-01
- DOI:
- EISSN:
-
1464-5491
- ISSN:
-
0742-3071
- Source identifiers:
-
20286
Item Description
- Language:
- English
- Keywords:
- Pubs id:
-
pubs:20286
- UUID:
-
uuid:7ceba7df-d938-49a8-b436-77ff4f7db34e
- Local pid:
- pubs:20286
- Deposit date:
- 2012-12-19
Terms of use
- Copyright date:
- 2007
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