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Quoted phrase not found in phrase index: "Hyperinsulinemic hypoglycemia, familial, 4"
Page 1
Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha and 4 alpha in maturity-onset diabetes of the young and hyperinsulinemic hypoglycemia.
Colclough K, Bellanne-Chantelot C, Saint-Martin C, Flanagan SE, Ellard S. Colclough K, et al. Hum Mutat. 2013 May;34(5):669-85. doi: 10.1002/humu.22279. Epub 2013 Apr 2. Hum Mutat. 2013. PMID: 23348805
The number of different pathogenic HNF1A mutations totals 414 in 1,247 families. Mutations in the HNF4A gene encoding hepatocyte nuclear factor-4 alpha are a rarer cause of MODY with 103 different mutations reported in 173 families to date. ...The HNF4A MODY …
The number of different pathogenic HNF1A mutations totals 414 in 1,247 families. Mutations in the HNF4A gene encoding hepatocyte nucl …
Hyperinsulinism of the newborn.
Glaser B. Glaser B. Semin Perinatol. 2000 Apr;24(2):150-63. doi: 10.1053/sp.2000.6365. Semin Perinatol. 2000. PMID: 10805170 Review.
Neonatal hyperinsulinism (HI) is a clinical syndrome of pancreatic beta-cell dysfunction characterized by failure to suppress insulin secretion in the presence of hypoglycemia. Although rare, it is the most common cause for persistent hypoglycemia in the newborn per …
Neonatal hyperinsulinism (HI) is a clinical syndrome of pancreatic beta-cell dysfunction characterized by failure to suppress insulin secret …
The Genetic Architecture of Diabetes in Pregnancy: Implications for Clinical Practice.
Kleinberger JW, Maloney KA, Pollin TI. Kleinberger JW, et al. Am J Perinatol. 2016 Nov;33(13):1319-1326. doi: 10.1055/s-0036-1592078. Epub 2016 Aug 29. Am J Perinatol. 2016. PMID: 27571483 Free PMC article. Review.
MODY1, caused by HNF4A mutations, can paradoxically cause neonatal hyperinsulinemic hypoglycemia and macrosomia, indicating that detecting these cases is also clinically important. Diagnosing all MODY types provides opportunities for diagnosing other family m …
MODY1, caused by HNF4A mutations, can paradoxically cause neonatal hyperinsulinemic hypoglycemia and macrosomia, indicating th …
Hyperinsulinism/hyperammonemia syndrome caused by biallelic SLC25A36 mutation.
Safran A, Proskorovski-Ohayon R, Eskin-Schwartz M, Yogev Y, Drabkin M, Eremenko E, Aharoni S, Freund O, Jean MM, Agam N, Hadar N, Loewenthal N, Staretz-Chacham O, Birk OS. Safran A, et al. J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9. J Inherit Metab Dis. 2023. PMID: 36695547
In an independent study, through combined linkage analysis and exome sequencing, we demonstrate in four individuals of two Bedouin Israeli related families the same disease-causing SLC25A36 (NM_018155.3) c.284 + 3A > T homozygous splice-site mutation found in the two si …
In an independent study, through combined linkage analysis and exome sequencing, we demonstrate in four individuals of two Bedouin Israeli r …
Noninsulinoma pancreatogenous hypoglycaemia in adults--a spotlight on its genetics.
Gilis-Januszewska A, Piątkowski J, Skalniak A, Piwońska-Solska B, Nazim J, Pach D, Przybylik-Mazurek E, Sowa-Staszczak A, Starzyk J, Hubalewska-Dydejczyk A. Gilis-Januszewska A, et al. Endokrynol Pol. 2015;66(4):344-54. doi: 10.5603/EP.2015.0044. Endokrynol Pol. 2015. PMID: 26323472 Free article. Review.
Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". ...The genetic background of the remaining cases is unknown. Understanding the genetic basis of familial hyperinsulinism has changed the early look at the disease. ...
Hyperinsulinaemic hypoglycaemia (HH) is also classically referred to as "nesidioblastosis". ...The genetic background of the r …
Association of maternal nutrition with transient neonatal hyperinsulinism.
Louvigne M, Rouleau S, Caldagues E, Souto I, Montcho Y, Bouvagnet AM, Baud O, Carel JC, Gascoin G, Coutant R. Louvigne M, et al. PLoS One. 2018 May 3;13(5):e0195383. doi: 10.1371/journal.pone.0195383. eCollection 2018. PLoS One. 2018. PMID: 29723237 Free PMC article.
METHODS: Sixty-seven mothers of neonates diagnosed with transient hyperinsulinism and 113 mothers of controls were included. The screening for hyperinsulinemic hypoglycemia in neonates was performed because of clinical symptoms suggestive of hypoglycemia or i …
METHODS: Sixty-seven mothers of neonates diagnosed with transient hyperinsulinism and 113 mothers of controls were included. The screening f …
Accuracy and impact on quality of life of real-time continuous glucose monitoring in children with hyperinsulinaemic hypoglycaemia.
Sivasubramanian M, Avari P, Gilbert C, Doodson L, Morgan K, Oliver N, Shah P. Sivasubramanian M, et al. Front Endocrinol (Lausanne). 2023 Sep 26;14:1265076. doi: 10.3389/fendo.2023.1265076. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37822600 Free PMC article.
OBJECTIVE: Continuous glucose monitoring (CGM) is the standard of care for glucose monitoring in children with diabetes, however there are limited data reporting their use in hyperinsulinaemic hypoglycaemia (HH). Here, we evaluate CGM accuracy and its impact on qual …
OBJECTIVE: Continuous glucose monitoring (CGM) is the standard of care for glucose monitoring in children with diabetes, however there are l …
Ketogenic diet as elective treatment in patients with drug-unresponsive hyperinsulinemic hypoglycemia caused by glucokinase mutations.
Maiorana A, Caviglia S, Greco B, Alfieri P, Cumbo F, Campana C, Bernabei SM, Cusmai R, Mosca A, Dionisi-Vici C. Maiorana A, et al. Orphanet J Rare Dis. 2021 Oct 11;16(1):424. doi: 10.1186/s13023-021-02045-3. Orphanet J Rare Dis. 2021. PMID: 34635134 Free PMC article.
BACKGROUND: Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. ...These results might change the course and the quality of life of these patients and their families, having a relevant impact on human li …
BACKGROUND: Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. ...The …
Heterozygous Insulin Receptor (INSR) Mutation Associated with Neonatal Hyperinsulinemic Hypoglycaemia and Familial Diabetes Mellitus: Case Series.
Sethi A, Foulds N, Ehtisham S, Ahmed SH, Houghton J, Colclough K, Didi M, Flanagan SE, Senniappan S. Sethi A, et al. J Clin Res Pediatr Endocrinol. 2020 Nov 25;12(4):420-426. doi: 10.4274/jcrpe.galenos.2019.2019.0106. Epub 2020 Jan 28. J Clin Res Pediatr Endocrinol. 2020. PMID: 31989990 Free PMC article.
Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in adults and children (more than 3 years of age) but not in the neonatal period. ...(Met1180Lys) was found in the siblings, mother and grandfat …
Various autosomal dominant heterozygous INSR mutations leading to hyperinsulinemic hypoglycaemia (HH) have been described in a …
Persistent hyperinsulinemic hypoglycemia of infancy: experience with 28 cases.
al-Rabeeah A, al-Ashwal A, al-Herbish A, al-Jurayyan N, Sakati N, Abobakr A. al-Rabeeah A, et al. J Pediatr Surg. 1995 Aug;30(8):1119-21. doi: 10.1016/0022-3468(95)90001-2. J Pediatr Surg. 1995. PMID: 7472962
Twenty-eight infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) were seen during a 10-year period. ...Their age at time of presentation ranged from a few hours to 6 months. Consanguinity was reported in 20 cases (71.4%). One family …
Twenty-eight infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) were seen during a 10-year period. ...The …
25 results