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Year Number of Results
1969 1
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273 results

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Page 1
Update of variants identified in the pancreatic beta-cell K(ATP) channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes.
De Franco E, Saint-Martin C, Brusgaard K, Knight Johnson AE, Aguilar-Bryan L, Bowman P, Arnoux JB, Larsen AR, Sanyoura M, Greeley SAW, Calzada-León R, Harman B, Houghton JAL, Nishimura-Meguro E, Laver TW, Ellard S, Del Gaudio D, Christesen HT, Bellanné-Chantelot C, Flanagan SE. De Franco E, et al. Hum Mutat. 2020 May;41(5):884-905. doi: 10.1002/humu.23995. Epub 2020 Feb 17. Hum Mutat. 2020. PMID: 32027066 Free PMC article. Review.
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the beta-cell ATP-sensitive potassium channel, a key component of the glucose-stimulated insulin secretion pathway. Mutatio …
The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode …
Congenital Hyperinsulinism: Diagnosis and Treatment Update.
Demirbilek H, Hussain K. Demirbilek H, et al. J Clin Res Pediatr Endocrinol. 2017 Dec 30;9(Suppl 2):69-87. doi: 10.4274/jcrpe.2017.S007. Epub 2017 Dec 27. J Clin Res Pediatr Endocrinol. 2017. PMID: 29280746 Free PMC article. Review.
Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in the regulation of insulin secretion from pancreatic beta-cells have been described to be responsible for the underlying molecular mechanisms …
Mutations in 12 different key genes (ABCC8, KCNJ11, GLUD1, GCK, HADH, SLC16A1, UCP2, HNF4A, HNF1A, HK1, PGM1 and PMM2) that are involved in …
Somatostatin Analogs in Clinical Practice: a Review.
Gomes-Porras M, Cárdenas-Salas J, Álvarez-Escolá C. Gomes-Porras M, et al. Int J Mol Sci. 2020 Feb 29;21(5):1682. doi: 10.3390/ijms21051682. Int J Mol Sci. 2020. PMID: 32121432 Free PMC article. Review.
Somatostatin analogs have also shown to be useful in the treatment of other endocrine diseases (congenital hyperinsulinism, Graves' orbitopathy, diabetic retinopathy, diabetic macular edema), non-endocrine tumors (breast, colon, prostate, lung, and hepatocellular), …
Somatostatin analogs have also shown to be useful in the treatment of other endocrine diseases (congenital hyperinsulinism, Gr …
Congenital hyperinsulinism disorders: Genetic and clinical characteristics.
Rosenfeld E, Ganguly A, De Leon DD. Rosenfeld E, et al. Am J Med Genet C Semin Med Genet. 2019 Dec;181(4):682-692. doi: 10.1002/ajmg.c.31737. Epub 2019 Aug 14. Am J Med Genet C Semin Med Genet. 2019. PMID: 31414570 Free PMC article. Review.
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...Molecular diagnosis allows for prediction of responsiveness to medical treatment and likelihood of surgically-curable focal hyperinsulinism. Time
Congenital hyperinsulinism (HI) is the most frequent cause of persistent hypoglycemia in infants and children. ...Molecular di
Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC. Douillard C, et al. Ann Endocrinol (Paris). 2020 Jun;81(2-3):110-117. doi: 10.1016/j.ando.2020.04.003. Epub 2020 Apr 10. Ann Endocrinol (Paris). 2020. PMID: 32409005 Review.
Some hypoglycemic episodes remain unexplained, and genetic, paraneoplastic and immune causes should be considered. Genetic causes may be related to endogenous hyperinsulinism and to inborn errors of metabolism (IEM). Endogenous hyperinsulinism is related to monogeni …
Some hypoglycemic episodes remain unexplained, and genetic, paraneoplastic and immune causes should be considered. Genetic causes may be rel …
An Overview of Hypoglycemia in Children Including a Comprehensive Practical Diagnostic Flowchart for Clinical Use.
Casertano A, Rossi A, Fecarotta S, Rosanio FM, Moracas C, Di Candia F, Parenti G, Franzese A, Mozzillo E. Casertano A, et al. Front Endocrinol (Lausanne). 2021 Aug 2;12:684011. doi: 10.3389/fendo.2021.684011. eCollection 2021. Front Endocrinol (Lausanne). 2021. PMID: 34408725 Free PMC article. Review.
The main etiological causes are metabolic and/or endocrine and/or other congenital disorders. Despite hypoglycemia is one of the most common emergencies in neonatal age and childhood, no consensus on the definition and diagnostic work-up exists yet. ...
The main etiological causes are metabolic and/or endocrine and/or other congenital disorders. Despite hypoglycemia is one of the most …
Congenital hyperinsulinism: recent updates on molecular mechanisms, diagnosis and management.
Giri D, Hawton K, Senniappan S. Giri D, et al. J Pediatr Endocrinol Metab. 2021 Sep 21;35(3):279-296. doi: 10.1515/jpem-2021-0369. Print 2022 Mar 28. J Pediatr Endocrinol Metab. 2021. PMID: 34547194 Review.
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia. ...
Congenital hyperinsulinism (CHI) is a rare disease characterized by an unregulated insulin release, leading to hypoglycaemia.
Neonatal hypoglycemia: lack of evidence for a safe management.
Roeper M, Hoermann H, Kummer S, Meissner T. Roeper M, et al. Front Endocrinol (Lausanne). 2023 Jun 8;14:1179102. doi: 10.3389/fendo.2023.1179102. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 37361517 Free PMC article. Review.
Hyperinsulinemic hypoglycemia in children and adolescents: Recent advances in understanding of pathophysiology and management.
Gϋemes M, Rahman SA, Kapoor RR, Flanagan S, Houghton JAL, Misra S, Oliver N, Dattani MT, Shah P. Gϋemes M, et al. Rev Endocr Metab Disord. 2020 Dec;21(4):577-597. doi: 10.1007/s11154-020-09548-7. Rev Endocr Metab Disord. 2020. PMID: 32185602 Free PMC article. Review.
It is the most common cause of persistent and recurrent hypoglycemia in the neonatal period. HH may be primary, Congenital HH (CHH), when it is associated with variants in a number of genes implicated in pancreatic development and function. ...
It is the most common cause of persistent and recurrent hypoglycemia in the neonatal period. HH may be primary, Congenital HH (CHH), …
Insulinomatosis: new aspects.
Christ E, Iacovazzo D, Korbonits M, Perren A. Christ E, et al. Endocr Relat Cancer. 2023 May 16;30(6):e220327. doi: 10.1530/ERC-22-0327. Print 2023 Jun 1. Endocr Relat Cancer. 2023. PMID: 36952647 Review.
While most cases arise sporadically, there is recent evidence that autosomal dominant inheritance of mutations in the v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog A (MAFA) gene can cause a familial form of insulinomatosis. In these families, EHH is paradoxi …
While most cases arise sporadically, there is recent evidence that autosomal dominant inheritance of mutations in the v-maf avian musculoapo …
273 results