Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening-Reference-Cited by-同舟云学术

Focal congenital hyperinsulinism managed by medical treatment: a diagnostic algorithm based on molecular genetic screening

Published:2014-01-30 Issue:5 Volume:81 Page:679-688
ISSN:0300-0664
Container-title:Clinical Endocrinology
language:en
Short-container-title:Clin Endocrinol

Author:

Maiorana Arianna¹,Barbetti Fabrizio²³,Boiani Arianna¹,Rufini Vittoria⁴,Pizzoferro Milena⁵,Francalanci Paola⁶,Faletra Flavio⁷,Nichols Colin G.⁸,Grimaldi Chiara⁹,de Ville de Goyet Jean⁹,Rahier Jacques¹⁰,Henquin Jean-Claude¹¹,Dionisi-Vici Carlo¹

Affiliation:

1. Department of Pediatrics; Metabolic Unit; IRCCS Bambino Gesù Children's Hospital; Rome Italy

2. Laboratory of Mendelian Diabetes; IRCCS Bambino Gesù Children's Hospital; Rome Italy

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

4. Department of Nuclear Medicine; Catholic University of the Sacred Heart; Rome Italy

5. Department of Nuclear Medicine; IRCCS Bambino Gesù Children's Hospital; Rome Italy

6. Department of Pathology; IRCCS Bambino Gesù Children's Hospital; Rome Italy

7. Institute for Maternal and Child Health; IRCCS Burlo Garofalo; Trieste Italy

8. Department of Cell Biology and Physiology; Washington University School of Medicine; St. Louis MO USA

9. Liver Surgery and Transplantation Unit; IRCCS Bambino Gesù Children's Hospital; Rome Italy

10. Department of Pathology; University of Louvain; Brussels Belgium

11. Unit of Endocrinology and Metabolism; Faculty of Medicine; University of Louvain; Brussels Belgium

Publisher

Wiley

Subject

Endocrinology, Diabetes and Metabolism,Endocrinology

Reference35 articles.

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2. Advances in the diagnosis and management of hyperinsulinemic hypoglycaemia;Kapoor;Nature Clinical Practice. Endocrinology & Metabolism,2009

3. Congenital hyperinsulinism: current trends in diagnosis and therapy;Arnoux;Orphanet Journal of Rare Disease,2011

4. Congenital hyperinsulinism;Arnoux;Early Human Development,2010

5. Novel Presentations of Congenital Hyperinsulinism due to Mutations in the MODY genes: HNF1A and HNF4A;Stanescu;Journal of Clinical Endocrinology & Metabolism,2012

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3. Clinical and Molecular Characterization of Hyperinsulinism in Kabuki Syndrome;Journal of the Endocrine Society;2024-05-21

4. Integration of genomic analysis and transcript expression of ABCC8 and KCNJ11 in focal form of congenital hyperinsulinism;Frontiers in Endocrinology;2022-10-21

5. Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations;Orphanet Journal of Rare Diseases;2021-10-11