Results 21 to 30 of about 10,576 (237)
Identification of an ABCC8 variant in a kindred with transient diazoxide responsive hyperinsulinism [PDF]
Endocrinology, Diabetes & Metabolism Case ReportsCongenital hyperinsulinism is a rare disorder characterized by hypoglycemia and inappropriately elevated insulin levels. The genetics of congenital hyperinsulinism is complex, with the most common cause being pathogenic variants in the ATP-sensitive ...
Ryan L Smith, Stephen I Stone
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Patient-derived induced pluripotent stem cells for precision modelling of monogenic beta cell disorders [PDF]
Frontiers in EndocrinologyOver the past several years, research and technologies involving patient-derived induced pluripotent stem cells (iPSCs) have rapidly advanced, enabling the study of various disease pathologies, including rare pathologies like monogenic disorders of beta ...
Lily Deng, Mansa Krishnamurthy
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Therapies and outcomes of congenital hyperinsulinism-induced hypoglycaemia
Diabetic Medicine, 2019 Congenital hyperinsulinism is a rare disease, but is the most frequent cause of persistent and severe hypoglycaemia in early childhood. Hypoglycaemia caused by excessive and dysregulated insulin secretion (hyperinsulinism) from disordered pancreatic β ...
Shah, P +5 more
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Birth weight and diazoxide unresponsiveness strongly predict the likelihood of congenital hyperinsulinism due to a mutation in ABCC8 or KCNJ11 [PDF]
European Journal of Endocrinology, 2021 Objective Mutations in the KATP channel genes, ABCC8 and KCNJ11, are the most common cause of congenital hyperinsulinism. The diagnosis of KATP-hyperinsulinism is important for the clinical management of the condition.
JCS Jerome (21935396) +7 more
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Congenital Hyperinsulinism [electronic resource] : A Practical Guide to Diagnosis and Management /
Contemporary endocrinology, 2020 This unique book is a practical guide for the clinician faced with the challenge of diagnosing and managing neonates, infants and children with congenital hyperinsulinism (HI), within the framework of pathophysiology and molecular genetics.
De León-Crutchlow, Diva D.editor.edthttp://id.loc.gov/vocabulary/relators/edt +2 more
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Congenital hyperinsulinism due to mutations in HNF1A
European Journal of Medical Genetics, 2020 Congenital hyperinsulinism is a rare but significant cause of severe and persistent hypoglycaemia in infancy. Although a biphasic phenotype of congenital hyperinsulinism in infancy followed by Maturity-Onset Diabetes of the Young (MODY) in later life has
Colclough, Kevin
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Neonatal cardiac hypertrophy: the role of hyperinsulinism—a review of literature
European Journal of Pediatrics, 2020 Hypertrophic cardiomyopathy (HCM) in neonates is a rare and heterogeneous disorder which is characterized by hypertrophy of heart with histological and functional disruption of the myocardial structure/composition.
Freund, Matthias W. +5 more
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International Guidelines for the Diagnosis and Management of Hyperinsulinism
Hormone 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
Syndromic forms of congenital hyperinsulinism
Frontiers 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, K. Palm
semanticscholar +1 more source
Frontiers 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
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