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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. Despite diagnostic and therapeutic advances, it remains an important cause of morbidity, leading to neurological complications, such as psy …
BACKGROUND: Hyperinsulinemic hypoglycemia (HI) is the most frequent cause of recurrent hypoglycemia in children. Despit …
Genotypes of the pancreatic beta-cell K-ATP channel and clinical phenotypes of Japanese patients with persistent hyperinsulinaemic hypoglycaemia of infancy.
Ohkubo K, Nagashima M, Naito Y, Taguchi T, Suita S, Okamoto N, Fujinaga H, Tsumura K, Kikuchi K, Ono J. Ohkubo K, et al. Clin Endocrinol (Oxf). 2005 Apr;62(4):458-65. doi: 10.1111/j.1365-2265.2005.02242.x. Clin Endocrinol (Oxf). 2005. PMID: 15807877
OBJECTIVE: Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a disorder of glucose metabolism that is characterized by dysregulated secretion of insulin from pancreatic beta-cells. ...The other three mutations occurred in introns 14, 29 and 36, which m …
OBJECTIVE: Persistent hyperinsulinaemic hypoglycaemia of infancy (PHHI) is a disorder of glucose metabolism that is characteri …