Results 1 to 10 of about 9,077 (182)

Hyperinsulinism

Endocrines, 2022
Congenital or monogenic hyperinsulinism (HI) is a group of rare genetic disorders characterized by dysregulated insulin secretion and is the most common cause of persistent hypoglycemia in children.
Ethel Gonzales Clemente, Shibani Kanungo, Christine Schmitt, Dana Maajali   +3 more
doaj   +2 more sources

Case Report: The importance of genetic counseling for families with hyperinsulinism [PDF]

Frontiers in Pediatrics
Congenital hyperinsulinism (HI) is the most common cause of persistent hypoglycemia in infancy. Genotype-phenotype correlations directly inform medical care for patients.
Victoria R. Sanders, Victoria R. Sanders, Katherine Lord, Katherine Lord, Katherine Lord, Winnie M. Sigal, Winnie M. Sigal, Winnie M. Sigal, Heather McKnight, Heather McKnight, N. Scott Adzick, N. Scott Adzick, Lisa J. States, Lisa J. States, Tricia Bhatti, Tricia Bhatti, Diva D. De Leon, Diva D. De Leon, Diva D. De Leon   +18 more
doaj   +2 more sources

Non-coding cis-regulatory variants in HK1 cause congenital hyperinsulinism with variable disease severity [PDF]

Genome Medicine
Background We recently reported non-coding variants in a cis-regulatory element of the beta-cell disallowed gene hexokinase 1 (HK1) as a novel cause of congenital hyperinsulinism.
Jasmin J. Bennett, Cécile Saint-Martin, Bianca Neumann, Jonna M. E. Männistö, Jayne A. L. Houghton, Susann Empting, Matthew B. Johnson, Thomas W. Laver, Jonathan M. Locke, Benjamin Spurrier, Matthew N. Wakeling, Indraneel Banerjee, Antonia Dastamani, Hüseyin Demirbilek, John Mitchell, Markus Stange, International Congenital Hyperinsulinism Consortium, Klaus Mohnike, Jean-Baptiste Arnoux, Nick D. L. Owens, Martin Zenker, Christine Bellanné-Chantelot, Sarah E. Flanagan   +22 more
doaj   +2 more sources

Variables associated with endogenous hyperinsulinism in hypoglycemia diagnosis. Could the 72-hour fasting test be shortened in low-risk patients? [PDF]

Journal of Clinical & Translational Endocrinology
Background: The 72-hour fasting test remains the standard for the diagnosis of endogenous hyperinsulinism. We investigated which variables could identify patients at low risk for endogenous hyperinsulinism, in whom a shortening of the 72-hour fasting ...
Tomás González-Vidal, Óscar Lado-Baleato, Inés Masid, Carmen Gándara-Gutiérrez, Gema Martínez-Tamés, Jessica Ares, Carmen Lambert, María Riestra-Fernández, Francisco Gude, Elías Delgado, Edelmiro Menéndez-Torre   +10 more
doaj   +2 more sources

Hyperinsulinism [PDF]

Journal of Clinical Pathology, 1969
C. N. Hales
  +6 more sources

Genetics of neonatal hyperinsulinism [PDF]

Archives of Disease in Childhood - Fetal and Neonatal Edition, 2000
Congenital hyperinsulinism (HI) is a clinically and genetically heterogeneous entity. The clinical heterogeneity is manifested by severity ranging from extremely severe, life threatening disease to very mild clinical symptoms, which may even be difficult to identify.
Benjamin Gläser, Paul Thornton, Timo Otonkoski, Claudine Junien   +3 more
openalex   +4 more sources

Reactive Hyperinsulinism [PDF]

BMJ, 1944
F. T. G. Prunty
openalex   +3 more sources

Hyperinsulinism and atherogenesis. [PDF]

BMJ, 1971
John Yudkin, Stephen Szanto
openalex   +5 more sources

Cardiometabolic Risk Assessment in a Cohort of Children and Adolescents Diagnosed with Hyperinsulinemia [PDF]

Diseases
Background: Individuals with hyperinsulinemia may initially not meet any diagnostic criteria for metabolic syndrome, though displaying a higher risk of cardiovascular complications combined with obesity, diabetes, and hypertension.
Giorgio Sodero, Donato Rigante, Lucia Celeste Pane, Linda Sessa, Ludovica Quarta, Marcello Candelli, Clelia Cipolla   +6 more
doaj   +2 more sources

A tale of two sisters – delayed diagnosis of genetic hyperinsulinaemic hypoglycaemia [PDF]

Endocrinology, Diabetes & Metabolism Case Reports
Congenital hyperinsulinism is the leading cause of persistent hypoglycaemia in infants and children; however, it is uncommon to be diagnosed in adulthood. We describe the cases of two sisters who presented with hyperinsulinaemic hypoglycaemia aged 47 and
F Stringer, C Preston, R MacIsaac, F Inchley, L Rivera-Woll, S Farrell, Sachithanandan   +6 more
doaj   +2 more sources