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familial hypocalciuric hypercalcemia typei相关文献:
Familial hypocalciuric hypercalcemia and related disorders.
Lee JY, Shoback DM.
Best Pract Res Clin Endocrinol Metab. 2018 Oct;32(5):609-619. doi: 10.1016/j.beem.2018.05.004. Epub 2018 May 26.
PMID:30449544
Case Report: Familial hypocalciuric hypercalcemia type 1 with a novel mutation combined with Gitelman syndrome and a review of the literature.
He T, Li X, Li G, Wang W, Fu H, Gao Z, Liu X.
Front Endocrinol (Lausanne). 2025 Feb 25;16:1503128. doi: 10.3389/fendo.2025.1503128. eCollection 2025.
PMID:40070587
Benign familial hypocalciuric hypercalcemia.
Varghese J, Rich T, Jimenez C.
Endocr Pract. 2011 Mar-Apr;17 Suppl 1:13-7. doi: 10.4158/EP10308.RA.
PMID:21478088
Cinacalcet therapy in a child with novel homozygous CASR p.Glu353Lys mutation causing familial hypocalciuric hypercalcemia type 1: case report and review of the literature.
Koca SB.
Turk J Pediatr. 2023;65(5):853-861. doi: 10.24953/turkjped.2022.1040.
PMID:37853976
Familial hypocalciuric hypercalcemia presenting with psychosis.
Shaw-Jones M, Short B.
QJM. 2022 Nov 14;115(11):763-764. doi: 10.1093/qjmed/hcac161.
PMID:35789394
Familial hypocalciuric hypercalcemia and calcium sensing receptor.
Mrgan M, Nielsen S, Brixen K.
Acta Clin Croat. 2014 Jun;53(2):220-5.
PMID:25163238
Neurodevelopmental Abnormalities in Patients with Familial Hypocalciuric Hypercalcemia Type 3.
Chinoy A, Nicholson J, Skae M, Hannan FM, Thakker RV, Mughal MZ, Padidela R.
J Pediatr. 2023 Jun;257:113367. doi: 10.1016/j.jpeds.2023.02.013. Epub 2023 Mar 2.
PMID:36868303
Familial Hypocalciuric Hypercalcemia Type 1 and Autosomal-Dominant Hypocalcemia Type 1: Prevalence in a Large Healthcare Population.
Dershem R, Gorvin CM, Metpally RPR, Krishnamurthy S, Smelser DT, Hannan FM, Carey DJ, Thakker RV, Breitwieser GE; Regeneron Genetics Center.
Am J Hum Genet. 2020 Jun 4;106(6):734-747. doi: 10.1016/j.ajhg.2020.04.006. Epub 2020 May 7.
PMID:32386559
Familial Hypocalciuric Hypercalcemia and Neonatal Severe Hyperparathyroidism.
Vannucci L, Brandi ML.
Front Horm Res. 2019;51:52-62. doi: 10.1159/000491038. Epub 2018 Nov 19.
PMID:30641521
A case of familial hypocalciuric hypercalcemia type 1 due to CASR p.Pro55Leu mutation.
Sumida A, Iizuka K, Kato T, Liu Y, Kubota S, Kubota-Okamoto S, Sakurai T, Imaizumi T, Takahashi Y, Mizuno M, Takao K, Hirota T, Suwa T, Horikawa Y, Yamamoto M, Seino Y, Suzuki A, Yabe D.
BMC Endocr Disord. 2022 Jun 22;22(1):164. doi: 10.1186/s12902-022-01077-5.
PMID:35733207
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