Results 11 to 20 of about 20,640 (292)

Genetics of neonatal hyperinsulinism [PDF]

open access: bronzeArchives 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   +3 more
openalex   +4 more sources

Avaliação do hiperinsulinismo em amostra de crianças pré-puberes Hyperinsulinism assessment in a sample of prepubescent children [PDF]

open access: yesJornal de Pediatria, 2010
OBJETIVOS: Determinar a relação entre o índice de massa corporal (IMC), o homeostasis model assessment - insulin resistance (HOMA-IR) e a insulinemia. MÉTODOS: Realizou-se um estudo observacional prospectivo transversal com 132 crianças pré-púberes em ...
Stephanye Felicye Armecy Mieldazis   +5 more
doaj   +7 more sources

International Guidelines for the Diagnosis and Management of Hyperinsulinism

open access: yesHormone Research in Paediatrics, 2023
Background: Hyperinsulinism (HI) due to dysregulation of pancreatic beta-cell insulin secretion is the most common and most severe cause of persistent hypoglycemia in infants and children.
Diva D. De León   +16 more
semanticscholar   +1 more source

Case Report: Two Distinct Focal Congenital Hyperinsulinism Lesions Resulting From Separate Genetic Events

open access: yesFrontiers in Pediatrics, 2021
Focal hyperinsulinism (HI) comprises nearly 50% of all surgically treated HI cases and is cured if the focal lesion can be completely resected. Pre-operative localization of the lesion is thus critical.
Elizabeth Rosenfeld   +29 more
doaj   +1 more source

Syndromic forms of congenital hyperinsulinism

open access: yesFrontiers in Endocrinology, 2023
Congenital hyperinsulinism (CHI), also called hyperinsulinemic hypoglycemia (HH), is a very heterogeneous condition and represents the most common cause of severe and persistent hypoglycemia in infancy and childhood.
M. Zenker, K. Mohnike, Katja Palm
semanticscholar   +1 more source

Standardised practices in the networked management of congenital hyperinsulinism: a UK national collaborative consensus

open access: yesFrontiers in Endocrinology, 2023
Congenital hyperinsulinism (CHI) is a condition characterised by severe and recurrent hypoglycaemia in infants and young children caused by inappropriate insulin over-secretion.
M. G. Shaikh   +35 more
semanticscholar   +1 more source

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism

open access: yesNature Genetics, 2022
Gene expression is tightly regulated, with many genes exhibiting cell-specific silencing when their protein product would disrupt normal cellular function1.
M. Wakeling   +36 more
semanticscholar   +1 more source

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