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名词信息
中 文 名:
家族性孤立性甲状旁腺功能亢进症
英 文 名:
familial isolated hyperparathyroidism
中文又称:
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
疾病诊断名词
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Pubmed相关的文献
familial isolated hyperparathyroidism
相关文献:
New Concepts About Familial Isolated Hyperparathyroidism.
Marx SJ.
J Clin Endocrinol Metab. 2019 Sep 1;104(9):4058-4066. doi: 10.1210/jc.2018-02789.
PMID:30848815
Familial isolated hyperparathyroidism: clinical and genetic characteristics of 36 kindreds.
Simonds WF, James-Newton LA, Agarwal SK, Yang B, Skarulis MC, Hendy GN, Marx SJ.
Medicine (Baltimore). 2002 Jan;81(1):1-26. doi: 10.1097/00005792-200201000-00001.
PMID:11807402
Familial hyperparathyroidism.
Takami H, Shirahama S, Ikeda Y, Sasaki Y, Wada N, Niimi M, Kameyama K.
Biomed Pharmacother. 2000 Jun;54 Suppl 1:21s-24s. doi: 10.1016/s0753-3322(00)80006-2.
PMID:10914986
Whole exome sequencing in familial isolated primary hyperparathyroidism.
Cetani F, Pardi E, Aretini P, Saponaro F, Borsari S, Mazoni L, Apicella M, Civita P, La Ferla M, Caligo MA, Lessi F, Mazzanti CM, Torregossa L, Oppo A, Marcocci C.
J Endocrinol Invest. 2020 Feb;43(2):231-245. doi: 10.1007/s40618-019-01107-5. Epub 2019 Sep 5.
PMID:31486992
Hereditary Primary Hyperparathyroidism.
Newey PJ.
Endocrinol Metab Clin North Am. 2021 Dec;50(4):663-681. doi: 10.1016/j.ecl.2021.08.003.
PMID:34774240
[Familial isolated hyperparathyroidism: a report of two cases].
Matsuki T, Nishiura H, Jo Y, Kinoshita H, Morioka M, Tanaka H.
Nihon Hinyokika Gakkai Zasshi. 2000 Jan;91(1):33-6. doi: 10.5980/jpnjurol1989.91.33.
PMID:10689881
GCM2 p.Tyr394Ser variant in Ashkenazi Israeli patients with suspected familial isolated hyperparathyroidism.
Szalat A, Shpitzen S, Pollack R, Mazeh H, Durst R, Meiner V.
Front Endocrinol (Lausanne). 2023 Dec 7;14:1254156. doi: 10.3389/fendo.2023.1254156. eCollection 2023.
PMID:38130397
Management of familial hyperparathyroidism syndromes: MEN1, MEN2, MEN4, HPT-Jaw tumour, Familial isolated hyperparathyroidism, FHH, and neonatal severe hyperparathyroidism.
Cristina EV, Alberto F.
Best Pract Res Clin Endocrinol Metab. 2018 Dec;32(6):861-875. doi: 10.1016/j.beem.2018.09.010. Epub 2018 Sep 28.
PMID:30665551
GCM2-Activating Mutations in Familial Isolated Hyperparathyroidism.
Guan B, Welch JM, Sapp JC, Ling H, Li Y, Johnston JJ, Kebebew E, Biesecker LG, Simonds WF, Marx SJ, Agarwal SK.
Am J Hum Genet. 2016 Nov 3;99(5):1034-1044. doi: 10.1016/j.ajhg.2016.08.018. Epub 2016 Oct 13.
PMID:27745835
Familial isolated hyperparathyroidism caused by single adenoma: a distinct entity different from multiple endocrine neoplasia.
Watanabe T, Tsukamoto F, Shimizu T, Sugimoto T, Taguchi T, Nishisho I, Nakazawa H, Shiba E, Shishiba Y, Takai S.
Endocr J. 1998 Oct;45(5):637-46. doi: 10.1507/endocrj.45.637.
PMID:10395244
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