临床医学名词词典

名词信息

中文名: 家族性低尿钙性高钙血症2型

英文名: familial hypocalciuric hypercalcemia type 2

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 hypocalciuric hypercalcemia type 2相关文献:

Cinacalcet Rectifies Hypercalcemia in a Patient With Familial Hypocalciuric Hypercalcemia Type 2 (FHH2) Caused by a Germline Loss-of-Function Gα₁₁ Mutation.

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Cinacalcet Treatment in an Adolescent With Concurrent 22q11.2 Deletion Syndrome and Familial Hypocalciuric Hypercalcemia Type 3 Caused by AP2S1 Mutation.

PMID:

A G-protein Subunit-α11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

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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

The calcium-sensing receptor in physiology and in calcitropic and noncalcitropic diseases.

Hannan FM, Kallay E, Chang W, Brandi ML, Thakker RV.

Nat Rev Endocrinol. 2018 Dec;15(1):33-51. doi: 10.1038/s41574-018-0115-0.

PMID:30443043

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

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

Calcimimetic Use in Familial Hypocalciuric Hypercalcemia-A Perspective in Endocrinology.

Marx SJ.

J Clin Endocrinol Metab. 2017 Nov 1;102(11):3933-3936. doi: 10.1210/jc.2017-01606.

PMID:28945857

Ruling in a suspect: the role of AP2S1 mutations in familial hypocalciuric hypercalcemia type 3.

Hendy GN, Cole DE.

J Clin Endocrinol Metab. 2013 Dec;98(12):4666-9. doi: 10.1210/jc.2013-3616.

PMID:24311792

A G-protein Subunit-alpha11 Loss-of-Function Mutation, Thr54Met, Causes Familial Hypocalciuric Hypercalcemia Type 2 (FHH2).

Gorvin CM, Cranston T, Hannan FM, Rust N, Qureshi A, Nesbit MA, Thakker RV.

J Bone Miner Res. 2016 Jun;31(6):1200-6. doi: 10.1002/jbmr.2778. Epub 2016 Feb 6.

PMID:26729423

Familial Hypocalciuric Hypercalcemia in Pregnancy: Diagnostic Pitfalls.

Jones AR, Hare MJ, Brown J, Yang J, Meyer C, Milat F, Allan CA.

JBMR Plus. 2020 Apr 27;4(6):e10362. doi: 10.1002/jbm4.10362. eCollection 2020 Jun.

PMID:32537548