Rare causes of hypoglycemia in adults.
Douillard C, Jannin A, Vantyghem MC.
Ann Endocrinol (Paris). 2020 Jun;81(2-3):110-117. doi: 10.1016/j.ando.2020.04.003. Epub 2020 Apr 10.
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.
J Inherit Metab Dis. 2023 Jul;46(4):744-755. doi: 10.1002/jimd.12594. Epub 2023 Feb 9.
Mild Congenital Hyperinsulinism Caused by Mutation in Human Glucokinase Gene.
Sozaeva LS, Ismailova SK, Chernyak IY, Popov SV, Zakharova VV, Chugunov IS.
JCEM Case Rep. 2024 Dec 4;2(12):luae226. doi: 10.1210/jcemcr/luae226. eCollection 2024 Dec.
Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.
Snider KE, Becker S, Boyajian L, Shyng SL, MacMullen C, Hughes N, Ganapathy K, Bhatti T, Stanley CA, Ganguly A.
J Clin Endocrinol Metab. 2013 Feb;98(2):E355-63. doi: 10.1210/jc.2012-2169. Epub 2012 Dec 28.
Advances in lipodystrophy syndrome caused by LMNA gene mutation.
Xiao C, Liu JY, Yang CR, Yu M.
Yi Chuan. 2022 Oct 20;44(10):913-925. doi: 10.16288/j.yczz.22-225.
Convergent somatic mutations in metabolism genes in chronic liver disease.
Ng SWK, Rouhani FJ, Brunner SF, Brzozowska N, Aitken SJ, Yang M, Abascal F, Moore L, Nikitopoulou E, Chappell L, Leongamornlert D, Ivovic A, Robinson P, Butler T, Sanders MA, Williams N, Coorens THH, Teague J, Raine K, Butler AP, Hooks Y, Wilson B, Birtchnell N, Naylor H, Davies SE, Stratton MR, Martincorena I, Rahbari R, Frezza C, Hoare M, Campbell PJ.
Nature. 2021 Oct;598(7881):473-478. doi: 10.1038/s41586-021-03974-6. Epub 2021 Oct 13.
Heterogeneity in phenotype of hyperinsulinism caused by activating glucokinase mutations: a novel mutation and its functional characterization.
Martínez R, Gutierrez-Nogués Á, Fernández-Ramos C, Velayos T, Vela A; Spanish Congenital Hyperinsulinism Group; Navas MÁ, Castaño L.
Clin Endocrinol (Oxf). 2017 Jun;86(6):778-783. doi: 10.1111/cen.13318. Epub 2017 Mar 27.
Adipokines and aging.
Arai Y, Takayama M, Abe Y, Hirose N.
J Atheroscler Thromb. 2011;18(7):545-50. doi: 10.5551/jat.7039. Epub 2011 May 7.
Obesity caused by an OVOL2 mutation reveals dual roles of OVOL2 in promoting thermogenesis and limiting white adipogenesis.
Zhang Z, Jiang Y, Su L, Ludwig S, Zhang X, Tang M, Li X, Anderton P, Zhan X, Choi M, Russell J, Bu CH, Lyon S, Xu D, Hildebrand S, Scott L, Quan J, Simpson R, Sun Q, Qin B, Collie T, Tadesse M, Moresco EMY, Beutler B.
Cell Metab. 2022 Nov 1;34(11):1860-1874.e4. doi: 10.1016/j.cmet.2022.09.018. Epub 2022 Oct 12.
[Lipodystrophies].
Fardet L, Vigouroux C, Capeau J.
Rev Med Interne. 2013 Oct;34(10):614-22. doi: 10.1016/j.revmed.2012.11.008. Epub 2012 Dec 31.
