Congenital Hyperinsulinism

Congenital Hyperinsulinism is a rare autosomal disorder of carbohydrate metabolism characterized by dysregulated insulin secretion from pancreatic beta cells, leading to persistent hypoglycemia in the presence of inappropriately elevated insulin levels.

481

Publications

27K

Citations

2.2K

Authors

723

Institutions

Publications per year

2017–2026

113

Variants

Persistent Hyperinsulinemic Hypoglycemia Of Infancy

Parents

Carbohydrate Metabolism Disorders

Publications

481

Mutations in the Sulfonylurea Receptor Gene in Familial Persistent Hyperinsulinemic Hypoglycemia of Infancy

Pamela M. Thomas, Gilbert J. Cote, Nelson Wohllk et al. · Science · 1995 · 816 citations

Medicine, Genetics, Molecular Genetics +16

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Charles A. Stanley, Yen K. Lieu, Betty Y.L. Hsu et al. · New England Journal of Medicine · 1998 · 672 citations · Full text

Medicine, Genetics, Molecular Genetics +17

Genetic Analysis of Italian Patients with Congenital Hyperinsulinism of Infancy

Paola Sogno Valin, Maria Carla Proverbio, Cecilia Diceglie et al. · Hormone Research in Paediatrics · 2013 · 554 citations

Life Sciences, Genetics, Pediatrics +16

Macrosomia and Hyperinsulinaemic Hypoglycaemia in Patients with Heterozygous Mutations in the HNF4A Gene

Ewan R. Pearson, Sylvia F. Boj, Anna Steele et al. · PLoS Medicine · 2007 · 424 citations · Full text

Medicine, Endocrinology, Genetics +17

Beta-cell proliferation and apoptosis in the developing normal human pancreas and in hyperinsulinism of infancy.

Sameer Kassem, I. Ariel, Paul Thornton et al. · Diabetes · 2000 · 353 citations · Full text

Medicine, Endocrinology, Pathology +17

1–5 of 481

Authors

2.2K

CA
Charles A. Stanley
Children's Hospital of Philadelphia, United States
64 publications · 6.3K citations
46
h-index
KH
Khalid Hussain
University College London, United Kingdom
62 publications · 3.5K citations
31
h-index
SE
Sian Ellard
University of Exeter, United Kingdom
43 publications · 2.6K citations
27
h-index
SE
Sarah E. Flanagan
University of Exeter, United Kingdom
43 publications · 2K citations
26
h-index
PT
Paul Thornton
Children's Hospital of Philadelphia, United States
24 publications · 2.4K citations
21
h-index

1–5 of 2.2K

Institutions

723

1–8 of 723

Venues

The Journal of Clinical Endocrinology & Metabolism
JCEM · 46 publications · 3.1K citations
35
h-index
Diabetes
26 publications · 2.1K citations
21
h-index
Hormone Research in Paediatrics
26 publications · 1.4K citations
19
h-index
European Journal of Endocrinology
EJE · 15 publications · 1.1K citations
14
h-index
PubMed
Repository · 16 publications · 639 citations
14
h-index

1–5