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Activating glucokinase (GCK) mutations as a cause of medically responsive congenital hyperinsulinism: prevalence in children and characterisation of a novel GCK mutation.

Abstract:

OBJECTIVE: Activating glucokinase (GCK) mutations are a rarely reported cause of congenital hyperinsulinism (CHI), but the prevalence of GCK mutations is not known. METHODS: From a pooled cohort of 201 non-syndromic children with CHI from three European referral centres (Denmark, n=141; Norway, n=26; UK, n=34), 108 children had no K(ATP)-channel (ABCC8/KCNJ11) gene abnormalities and were screened for GCK mutations. Novel GCK mutations were kinetically characterised. RESULTS: In five patients...

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Publisher copy:
10.1530/eje-08-0203

Authors


Christesen, HB More by this author
Tribble, ND More by this author
Siddiqui, J More by this author
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Journal:
European journal of endocrinology / European Federation of Endocrine Societies
Volume:
159
Issue:
1
Pages:
27-34
Publication date:
2008-07-05
DOI:
EISSN:
1479-683X
ISSN:
0804-4643
URN:
uuid:7d9d0304-6a3a-4579-b46d-949920933983
Source identifiers:
11853
Local pid:
pubs:11853

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