- Abstract:
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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...
Expand abstract - Publication status:
- Published
- Publisher copy:
- 10.1210/jc.2005-2633
-
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- Journal:
- The Journal of clinical endocrinology and metabolism
- Volume:
- 91
- Issue:
- 8
- Pages:
- 3110-3116
- Publication date:
- 2006-08-05
- DOI:
- EISSN:
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1945-7197
- ISSN:
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0021-972X
- URN:
-
uuid:0b946c5b-b91a-4f73-9516-3d14e2d2f2c3
- Source identifiers:
-
29521
- Local pid:
- pubs:29521
- Language:
- English
- Keywords:
- Copyright date:
- 2006
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.
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