Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation-Reference-Cited by-同舟云学术

Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation

Published:2018-02-07 Issue:4 Volume:19 Page:670-674
ISSN:1399-543X
Container-title:Pediatric Diabetes
language:en
Short-container-title:Pediatr Diabetes

Author:

Innaurato Stefania¹,Brierley Gemma V²³,Grasso Valeria⁴,Massimi Arianna⁴,Gaudino Rossella⁵,Sileno Sara⁴,Bernardini Sergio⁴,Semple Robert²³,Barbetti Fabrizio⁴⁶^ORCID

Affiliation:

1. UOC Pediatrics; Santa Maria della Misericordia Hospital; Rovigo Italy

2. The University of Cambridge Metabolic Research Laboratories; Wellcome Trust-MRC Institute of Metabolic Science; Cambridge UK

3. The National Institute for Health Research; Cambridge Biomedical Research Centre; Cambridge UK

4. Department of Experimental Medicine and Surgery; University of Rome Tor Vergata; Rome Italy

5. Department of Surgical Sciences, Dentistry, Gynecology and Pediatrics, University of Verona; Borgo Trento Hospital; Verona Italy

6. Bambino Gesù Children's Hospital; Rome Italy

Funder

Italian Ministry of Health

Italian Society of Diabetology (SID)

United Kingdom National Institute for Health Research (NIHR) Cambridge Biomedical Research Centre

Medical Research Council Canada

Wellcome Trust

Diabetes UK

Diabetes Research and Wellness Foundation

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology and Child Health,Internal Medicine

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/pedi.12632/fullpdf

Reference19 articles.

1. Pathogenesis and management of hypoglycemia;Kittah;Eur J Endocrinol,2017

2. Hyperinsulinemic hypoglycemia - the molecular mechanisms;Nessa;Front Endocrinol,2016

3. Physical exercise-induced hypo glycemia caused by failed silencing of monocarboxylate transporter 1 in pancreatic beta cells;Otonkoski;Am J Hum Genet,2007

4. HNF1A presenting with fetal macrosomia and hypoglycemia in childhood prior to onset of overt diabetes;Dusatkova;J Pediatr Endocrinol Metab,2011

5. Diagnosis of ABCC8 congenital hyperinsulinism of infancy in a 20-year-old man evaluated for factitious hypoglycemia;Gutgold;J Clin Endocrinol Metab,2017

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1. Monogenic diabetes due to an INSR mutation in a child with severe insulin resistance;Endocrinology, Diabetes & Metabolism Case Reports;2022-01-01

2. Clinical and Functional Characterization of Novel INSR Variants in Two Families With Severe Insulin Resistance Syndrome;Frontiers in Endocrinology;2021-04-29

3. Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series;Journal of Clinical Research in Pediatric Endocrinology;2020-11-25

4. A novel heterozygous mutation in the insulin receptor gene presenting with type A severe insulin resistance syndrome;Journal of Pediatric Endocrinology and Metabolism;2020-05-22

5. Unusual Glycemic Presentations in a Child with a Novel Heterozygous Intragenic INSR Deletion;Hormone Research in Paediatrics;2020