A family with permanent neonatal diabetes due to a novel mutation in INS gene

Diabetes Research and Clinical Practice
Rumyana DimovaMaya Konstantinova

Abstract

In this report we present a family with permanent neonatal diabetes, heterozygous for a novel INS gene missense mutation, p.A24V, manifested with marked hyperglycemia and ketoacidosis, unstable glycemic control, requiring insulin therapy, rapid progression of long-term complications and accompanying physical pathological signs and brain lesions.

References

Sep 15, 2007·Proceedings of the National Academy of Sciences of the United States of America·Julie StøyUNKNOWN Neonatal Diabetes International Collaborative Group
May 3, 2008·The Journal of Clinical Investigation·Carlo ColomboUNKNOWN Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetes (SIEDP)
Sep 17, 2009·Pediatric Diabetes·Andrew HattersleyKim C Donaghue
Aug 21, 2010·Trends in Endocrinology and Metabolism : TEM·Ming LiuPeter Arvan
Oct 13, 2010·Reviews in Endocrine & Metabolic Disorders·Julie StøyGraeme I Bell
May 6, 2011·Diabetologia·L RussoUNKNOWN ISPED Early Diabetes Study Group
Jul 26, 2014·Diabetes Care·Dario IafuscoUNKNOWN Early Onset Diabetes Study Group of the Italian Society of Pediatric Endocrinology and Diabetology (ISPED)

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Citations

Oct 9, 2020·Journal of Pediatric Endocrinology & Metabolism : JPEM·Chong Kun CheonJu Young Yoon
Jun 27, 2021·Molecular Metabolism·Julie StøyAndrew T Hattersley

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