The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation
Abstract
Spontaneous hyperinsulinemic hypoglycemia in adults is most frequently caused by sporadic, solitary pancreatic beta-cell tumors, whereas hyperinsulinemic hypoglycemia in childhood is commonly caused by generalized beta-cell dysfunction.1 Mutations in the beta-cell sulfonylurea-receptor (SUR1) gene or inward-rectifying potassium-channel (Kir6.2) gene were found in some patients.2–7 A distinct syndrome of hyperinsulinism with hyperammonemia was recently described,8,9 apparently caused by mutations in the glutamate dehydrogenase gene.10 However, many sporadic and familial cases of hyperinsulinism remain unexplained. Some may be due to somatic mutations in other genes, as suggested by reports of autosomal dominant familial hyperinsulinism that was . . .
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Thomas, P. M., Cote, G. J., Wohllk, N., Haddad, B., Mathew, P. M., Rabl, W., Aguilar-Bryan, L., Gagel, R. F., & Bryan, J. (1995) · Science · doi:10.1126/science.7716548 · Cited by 806
Quantitative study of insulin secretion and clearance in normal and obese subjects
Polonsky, K. S., Given, B. D., Hirsch, L., Shapiro, E. T., Tillil, H., Beebe, C., Galloway, J. A., Frank, B. H., Karrison, T., & Van Cauter, E. (1988) · Journal of Clinical Investigation · doi:10.1172/jci113338 · Cited by 444
Cited by
Gloyn, A. L., Pearson, E. R., Antcliff, J. F., Proks, P., Bruining, G. J., Slingerland, A. S., Howard, N., Srinivasan, S., Silva, J. M. C. L., Molnes, J., et al. (2004) · New England Journal of Medicine · doi:10.1056/nejmoa032922 · Cited by 1,137
Molecular Biology of Adenosine Triphosphate-Sensitive Potassium Channels*
Aguilar-Bryan, L., & Bryan, J. (1999) · Endocrine Reviews · doi:10.1210/edrv.20.2.0361 · Cited by 698
Stanley, C. A., Lieu, Y. K., Hsu, B. Y. L., Burlina, A. B., Greenberg, C. R., Hopwood, N. J., Perlman, K., Rich, B. H., Zammarchi, E., & Poncz, M. (1998) · New England Journal of Medicine · doi:10.1056/nejm199805073381904 · Cited by 677
Self-citationATP-sensitive potassium channelopathies: focus on insulin secretion
Ashcroft, F. M. (2005) · Journal of Clinical Investigation · doi:10.1172/jci25495 · Cited by 623
Structural Basis for Allosteric Regulation of the Monomeric Allosteric Enzyme Human Glucokinase
Kamata, K., Mitsuya, M., Nishimura, T., Eiki, J.-I., & Nagata, Y. (2004) · Structure · doi:10.1016/j.str.2004.02.005 · Cited by 502
Metadata
- Authors
- Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., & Herold, K. C.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 1998-01-22
- Volume
- 338
- Issue
- 4
- Pages
- 226-230
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2330339020
- Cited by
- 564
- References
- 2
- FWCI
- 31.44
- Type
- journal article
- Language
- en
- Open access
- closed
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- Glaser, B., Kesavan, P., Heyman, M., Davis, E., Cuesta, A., Buchs, A., Stanley, C. A., Thornton, P. S., Permutt, M. A., Matschinsky, F. M., & Herold, K. C. (1998). Familial Hyperinsulinism Caused by an Activating Glucokinase Mutation. New England Journal of Medicine. https://doi.org/10.1056/nejm199801223380404
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
