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hyperinsulinism caused by INSR mutation相关文献:
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.
PMID:32409005
Syndrome of Congenital Insulin Resistance Caused by a Novel INSR Gene Mutation.
Rojek A, Wikiera B, Noczynska A, Niedziela M.
J Clin Res Pediatr Endocrinol. 2023 Aug 23;15(3):312-317. doi: 10.4274/jcrpe.galenos.2021.2021.0256. Epub 2021 Dec 30.
PMID:34965699
Clinical characteristics of adolescent cases with Type A insulin resistance syndrome caused by heterozygous mutations in the beta-subunit of the insulin receptor (INSR) gene.
Takasawa K, Tsuji-Hosokawa A, Takishima S, Wada Y, Nagasaki K, Dateki S, Numakura C, Hijikata A, Shirai T, Kashimada K, Morio T.
J Diabetes. 2019 Jan;11(1):46-54. doi: 10.1111/1753-0407.12797. Epub 2018 Jul 4.
PMID:29877041
The Changing Landscape of Neonatal Diabetes Mellitus in Italy Between 2003 and 2022.
Rapini N, Delvecchio M, Mucciolo M, Ruta R, Rabbone I, Cherubini V, Zucchini S, Cianfarani S, Prandi E, Schiaffini R, Bizzarri C, Piccini B, Maltoni G, Predieri B, Minuto N, Di Paola R, Giordano M, Tinto N, Grasso V, Russo L, Tiberi V, Scaramuzza A, Frontino G, Maggio MC, Musolino G, Piccinno E, Tinti D, Carrera P, Mozzillo E, Cappa M, Iafusco D, Bonfanti R, Novelli A, Barbetti F; Diabetes Study Group of Italian Society for Pediatric Endocrinology and Diabetes (ISPED).
J Clin Endocrinol Metab. 2024 Aug 13;109(9):2349-2357. doi: 10.1210/clinem/dgae095.
PMID:38408297
Metabolism and insulin signaling in common metabolic disorders and inherited insulin resistance.
Højlund K.
Dan Med J. 2014 Jul;61(7):B4890.
PMID:25123125
Siblings With HNF4A Congenital Hyperinsulinism From Possible Parental Gonadal Mosaicism.
Wolschendorf R, Eimicke T, Swartz J.
JCEM Case Rep. 2023 Aug 14;1(4):luad089. doi: 10.1210/jcemcr/luad089. eCollection 2023 Jul.
PMID:37908999
Evaluation of anti-insulin receptor antibodies as potential novel therapies for human insulin receptoropathy using cell culture models.
Brierley GV, Siddle K, Semple RK.
Diabetologia. 2018 Jul;61(7):1662-1675. doi: 10.1007/s00125-018-4606-2. Epub 2018 Apr 27.
PMID:29700562
Structural Basis and Genotype-Phenotype Correlations of INSR Mutations Causing Severe Insulin Resistance.
Hosoe J, Kadowaki H, Miya F, Aizu K, Kawamura T, Miyata I, Satomura K, Ito T, Hara K, Tanaka M, Ishiura H, Tsuji S, Suzuki K, Takakura M, Boroevich KA, Tsunoda T, Yamauchi T, Shojima N, Kadowaki T.
Diabetes. 2017 Oct;66(10):2713-2723. doi: 10.2337/db17-0301. Epub 2017 Aug 1.
PMID:28765322
Severe insulin resistance in disguise: A familial case of reactive hypoglycemia associated with a novel heterozygous INSR mutation.
Innaurato S, Brierley GV, Grasso V, Massimi A, Gaudino R, Sileno S, Bernardini S, Semple R, Barbetti F.
Pediatr Diabetes. 2018 Jun;19(4):670-674. doi: 10.1111/pedi.12632. Epub 2018 Feb 7.
PMID:29411486
Case Report: A Chinese Family of Type A Insulin Resistance Syndrome With Diabetes Mellitus, With a Novel Heterozygous Missense Mutation of the Insulin Receptor Gene.
You W, Yang J, Wang L, Liu Y, Wang W, Zhu L, Wang W, Yang J, Chen F.
Front Endocrinol (Lausanne). 2022 May 12;13:895424. doi: 10.3389/fendo.2022.895424. eCollection 2022.
PMID:35634501
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