A Novel Syndrome of Autosomal-Dominant Hyperinsulinemic Hypoglycemia Linked to a Mutation in the Human Insulin Receptor Gene
Author:
Affiliation:
1. Diabetes Research Centre, Department of Endocrinology, Odense University Hospital, Odense, Denmark
2. Steno Diabetes Center, Copenhagen, Denmark
3. Department of Medicine, Division of Endocrinology, Holstebro Hospital, Holstebro, Denmark
Abstract
Publisher
American Diabetes Association
Subject
Endocrinology, Diabetes and Metabolism,Internal Medicine
Link
https://journals.org/diabetes/diabetes/article-pdf/53/6/1592/377233/zdb00604001592.pdf
Reference34 articles.
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3. Thomas P, Ye Y, Lightner E: Mutation of the pancreatic islet inward rectifier Kir6.2 also leads to familial persistent hyperinsulinemic hypoglycemia of infancy. Hum Mol Genet 5:1809–1812,1996
4. Dunne MJ, Kane C, Shepherd RM, Sanchez JA, James RFL, Johnson PRV, Aynsley-Green A, Lu S, Clement IV JP, Lindley KJ, Seino S, Aguilar-Bryan L: Familial persistent hyperinsulinemic hypoglycemia of infancy and mutations in the sulfonylurea receptor. N Engl J Med 336:703–706,1997
5. Thornton PS, Satin-Smith MS, Herold K, Glaser B, Chiu KC, Nestorowics A, Permutt A, Baker L, Stanley CA: Familial hyperinsulinism with apparent autosomal dominant inheritance: clinical and genetic differences from the autosomal recessive variant. J Pediatr 132:9–14,1998
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