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Quoted phrase not found in phrase index: "Hyperinsulinemic hypoglycemia, familial, 4"
Page 1
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 h …
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 had tw …
Twenty-eight infants with persistent hyperinsulinemic hypoglycemia of infancy (PHHI) were seen during a 10-year period. ...The …
Persistent hyperinsulinemic hypoglycemia of infancy.
Desai MP, Khatri JV. Desai MP, et al. Indian Pediatr. 1998 Apr;35(4):317-28. Indian Pediatr. 1998. PMID: 9770886
OBJECTIVE: To study the nature and clinical course of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) due to nesidioblastosis. ...Of the seven survivors, one familial case with pancreatic resection is brain damaged, and of the six on diazoxi …
OBJECTIVE: To study the nature and clinical course of persistent hyperinsulinemic hypoglycemia of infancy (PHHI) due to …
Macrosomia and hyperinsulinaemic hypoglycaemia in patients with heterozygous mutations in the HNF4A gene.
Pearson ER, Boj SF, Steele AM, Barrett T, Stals K, Shield JP, Ellard S, Ferrer J, Hattersley AT. Pearson ER, et al. PLoS Med. 2007 Apr;4(4):e118. doi: 10.1371/journal.pmed.0040118. PLoS Med. 2007. PMID: 17407387 Free PMC article.
METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutations, and 134 patients from families with HNF1A mutations. ...There was documented hyperinsulinaemia in three cases. Birthweight and …
METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutat …
Familial hyperinsulinemic hypoglycemia caused by a defect in the SCHAD enzyme of mitochondrial fatty acid oxidation.
Molven A, Matre GE, Duran M, Wanders RJ, Rishaug U, Njølstad PR, Jellum E, Søvik O. Molven A, et al. Diabetes. 2004 Jan;53(1):221-7. doi: 10.2337/diabetes.53.1.221. Diabetes. 2004. PMID: 14693719
Inappropriately elevated insulin secretion is the hallmark of persistent hyperinsulinemic hypoglycemia of infancy (PHHI), also denoted congenital hyperinsulinism. ...Urine metabolite analysis showed that SCHAD deficiency resulted in specific excretion of 3-hydroxygl …
Inappropriately elevated insulin secretion is the hallmark of persistent hyperinsulinemic hypoglycemia of infancy (PHHI), also …
The evolving course of HNF4A hyperinsulinaemic hypoglycaemia--a case series.
McGlacken-Byrne SM, Hawkes CP, Flanagan SE, Ellard S, McDonnell CM, Murphy NP. McGlacken-Byrne SM, et al. Diabet Med. 2014 Jan;31(1):e1-5. doi: 10.1111/dme.12259. Diabet Med. 2014. PMID: 23796040
In this case series, we report three children with HNF4A mutations (two de novo) and diazoxide-responsive congenital hyperinsulinism, highlighting the potential for ongoing diazoxide requirement and the importance of screening for these mutations even in the absence of family …
In this case series, we report three children with HNF4A mutations (two de novo) and diazoxide-responsive congenital hyperinsulinism, highli …
Clinical presentation and treatment response to diazoxide in two siblings with congenital hyperinsulinism as a result of a novel compound heterozygous ABCC8 missense mutation.
Galcheva S, Iotova V, Ellard S, Flanagan SE, Halvadzhiyan I, Petrova C, Hussain K. Galcheva S, et al. J Pediatr Endocrinol Metab. 2017 Apr 1;30(4):471-474. doi: 10.1515/jpem-2016-0345. J Pediatr Endocrinol Metab. 2017. PMID: 28328534
BACKGROUND: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the underlying genetic etiology. We present two siblings with hyperinsulinaemic hypoglycaemia (HH) and marked clinical heterogeneity …
BACKGROUND: Congenital hyperinsulinism (CHI) can present with considerable clinical heterogeneity which may be due to differences in the und …