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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
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
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
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
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 and calcium sensing receptor.
Mrgan M, Nielsen S, Brixen K.
Acta Clin Croat. 2014 Jun;53(2):220-5.
PMID:25163238
Familial hypocalciuric hypercalcemia: the challenge of diagnosis.
Lasbleiz A, Paladino NC, Romanet P, Castinetti F, Cuny T, Sebag F, Taïeb D.
Endocrine. 2022 Feb;75(2):646-649. doi: 10.1007/s12020-021-02909-5. Epub 2021 Oct 29.
PMID:34714514
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
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