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Quoted phrase not found in phrase index: "Hyperinsulinemic hypoglycemia, familial, 8"
Page 1
Genetics and Natural History of Non-pancreatectomized Patients With Congenital Hyperinsulinism Due to Variants in ABCC8.
Clemente M, Cobo P, Antolín M, Campos A, Yeste D, Tomasini R, Caimari M, Masas M, García-Arumí E, Fernández-Cancio M, Baz-Redón N, Camats-Tarruella N. Clemente M, et al. J Clin Endocrinol Metab. 2023 Oct 18;108(11):e1316-e1328. doi: 10.1210/clinem/dgad280. J Clin Endocrinol Metab. 2023. PMID: 37216904
CONTEXT: Patients with congenital hyperinsulinism due to ABCC8 variants generally present severe hypoglycemia and those who do not respond to medical treatment typically undergo pancreatectomy. ...RESULTS: Eighteen non-pancreatectomized patients with ABCC8 variants were in …
CONTEXT: Patients with congenital hyperinsulinism due to ABCC8 variants generally present severe hypoglycemia and those who do not re …
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 …
Genetic variants of ABCC8 and phenotypic features in Chinese early onset diabetes.
Li M, Gong S, Han X, Zhang S, Ren Q, Cai X, Luo Y, Zhou L, Zhang R, Liu W, Zhu Y, Zhou X, Sun Y, Li Y, Ma Y, Ji L. Li M, et al. J Diabetes. 2021 Jul;13(7):542-553. doi: 10.1111/1753-0407.13144. Epub 2021 Jan 4. J Diabetes. 2021. PMID: 33300273
BACKGROUND: ABCC8 variants cause neonatal diabetes, maturity onset diabetes of the young (MODY), and hyperinsulinemic hypoglycemia because of activating or inactivating variants. ...They harbored eight missense ABCC8 variants (p.R306C, p.E1326K, and p.R1379H, previo …
BACKGROUND: ABCC8 variants cause neonatal diabetes, maturity onset diabetes of the young (MODY), and hyperinsulinemic hypoglycemia …
Polycystic Kidney Disease with Hyperinsulinemic Hypoglycemia Caused by a Promoter Mutation in Phosphomannomutase 2.
Cabezas OR, Flanagan SE, Stanescu H, García-Martínez E, Caswell R, Lango-Allen H, Antón-Gamero M, Argente J, Bussell AM, Brandli A, Cheshire C, Crowne E, Dumitriu S, Drynda R, Hamilton-Shield JP, Hayes W, Hofherr A, Iancu D, Issler N, Jefferies C, Jones P, Johnson M, Kesselheim A, Klootwijk E, Koettgen M, Lewis W, Martos JM, Mozere M, Norman J, Patel V, Parrish A, Pérez-Cerdá C, Pozo J, Rahman SA, Sebire N, Tekman M, Turnpenny PD, Hoff WV, Viering DHHM, Weedon MN, Wilson P, Guay-Woodford L, Kleta R, Hussain K, Ellard S, Bockenhauer D. Cabezas OR, et al. J Am Soc Nephrol. 2017 Aug;28(8):2529-2539. doi: 10.1681/ASN.2016121312. Epub 2017 Apr 3. J Am Soc Nephrol. 2017. PMID: 28373276 Free PMC article.
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorders. The co-occurrence of these disorders (HIPKD) in 17 children from 11 unrelated families suggested an unrecognized genetic disorder. …
Hyperinsulinemic hypoglycemia (HI) and congenital polycystic kidney disease (PKD) are rare, genetically heterogeneous disorder …
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. ...Transient hypoglycaemia was reported in 8/54 infants with …
METHODS AND FINDINGS: We examined birthweight and hypoglycaemia in 108 patients from families with diabetes due to HNF4A mutat …
Neonatal hyperinsulinemic hypoglycemia. Two case reports.
Zaffanello M, Zamboni G, Maffeis C, Antoniazzi F, Tatò L. Zaffanello M, et al. Minerva Pediatr. 2002 Aug;54(4):325-33. Minerva Pediatr. 2002. PMID: 12131869 English, Italian.
Neonatal hyperinsulinemic hypoglycemia must be suddenly and appropriately diagnosed and treated to prevent any further neurological dysfunction and damage. ...Case 2: negative familial and perinatal history. On the 3rd day of life he developed cyanosis, hypot …
Neonatal hyperinsulinemic hypoglycemia must be suddenly and appropriately diagnosed and treated to prevent any further neurolo …
Severe persistent hyperinsulinemic hypoglycemia due to a de novo glucokinase mutation.
Cuesta-Muñoz AL, Huopio H, Otonkoski T, Gomez-Zumaquero JM, Näntö-Salonen K, Rahier J, López-Enriquez S, García-Gimeno MA, Sanz P, Soriguer FC, Laakso M. Cuesta-Muñoz AL, et al. Diabetes. 2004 Aug;53(8):2164-8. doi: 10.2337/diabetes.53.8.2164. Diabetes. 2004. PMID: 15277402
Heterozygous inactivating mutations in the glucokinase gene (GCK) cause a mild form of diabetes (maturity-onset diabetes of the young [MODY]2), and activating mutations have been associated with a mild form of familial hyperinsulinemic hypoglycemia. We descri …
Heterozygous inactivating mutations in the glucokinase gene (GCK) cause a mild form of diabetes (maturity-onset diabetes of the young [MODY] …
Heterogeneity in disease severity in a family with a novel G68V GCK activating mutation causing persistent hyperinsulinaemic hypoglycaemia of infancy.
Wabitsch M, Lahr G, Van de Bunt M, Marchant C, Lindner M, von Puttkamer J, Fenneberg A, Debatin KM, Klein R, Ellard S, Clark A, Gloyn AL. Wabitsch M, et al. Diabet Med. 2007 Dec;24(12):1393-9. doi: 10.1111/j.1464-5491.2007.02285.x. Epub 2007 Nov 1. Diabet Med. 2007. PMID: 17976205
BACKGROUND/AIM: Glucokinase (GCK)-activating mutations cause persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). GCK-PHHI patients have regulated insulin secretion and can usually be treated with diazoxide. ...The severity of hypoglycaemia and relat …
BACKGROUND/AIM: Glucokinase (GCK)-activating mutations cause persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI). GCK …
A novel mutation in GLUD1 causing hyperinsulinism-hyperammonemia in a patient with high density of homozygosity on microarray: a case report.
Odom J, Gieron-Korthals M, Shulman D, Newkirk P, Prijoles E, Sanchez-Valle A. Odom J, et al. J Med Case Rep. 2016 Feb 2;10:25. doi: 10.1186/s13256-016-0811-0. J Med Case Rep. 2016. PMID: 26839063 Free PMC article.
Sequencing of her GLUD1 gene revealed a previously undescribed mutation of cytosine to thymine at position 1519 resulting in an amino acid change of histidine to tyrosine at position 507. Although no functional studies were performed, function prediction tools in combinati …
Sequencing of her GLUD1 gene revealed a previously undescribed mutation of cytosine to thymine at position 1519 resulting in an amino acid c …