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Journal article

Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome.

Abstract:

CONTEXT: Alström syndrome (AS) is a monogenic form of infancy-onset obesity and insulin resistance, caused by ALMS1 mutations. The natural history of the insulin resistance is unknown, in particular how this relates to changes in body composition. It is also unclear how ALMS1 mutations relate to the characteristic phenotype. OBJECTIVES: Our objectives were to characterize body composition and metabolic parameters, to establish ALMS1 mutation spectrum of United Kingdom AS patients, and to dete...

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Publication status:
Published

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Publisher copy:
10.1210/jc.2005-2633

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Institution:
University of Oxford
Division:
MSD
Department:
RDM
Sub department:
OCDEM
Role:
Author
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Journal:
Journal of clinical endocrinology and metabolism
Volume:
91
Issue:
8
Pages:
3110-3116
Publication date:
2006-08-01
DOI:
EISSN:
1945-7197
ISSN:
0021-972X
Source identifiers:
29521

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