Rare disorders presenting in the diabetic clinic: an example using audit of the NSCT adult Alström clinics

Author:

Paisey RB,Barrett T,Carey CM,Hiwot T,Cramb R,White A,Seymour R,Bunce S,Waterson M,Rockett C,Vogler K,Williams K,Parkinson K,Kenny T

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Internal Medicine

Reference21 articles.

1. Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Bardet-Biedl syndrome;Alström;A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat Neurol Scand Suppl,1959

2. New Alström syndrome phenotypes based on the evaluation of 182 cases;Marshall;Arch Intern Med,2005

3. Clinical utility gene card for: Alström syndrome;Marshall;Eur J Hum Genet,2011

4. New insights and therapies for the metabolic consequences of Alström syndrome;Paisey;Curr Opin Lipidol,2009

5. Mutation of ALMS1, a large gene with a tandem repeat encoding 47 amino acids, causes Alström syndrome;Hearn;Nat Genet,2002

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