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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.
PMID:
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).
PMID:
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
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
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 in an infant: diagnosis and management quandaries.
Goldsweig B, Turk Yilmaz RS, Ravindranath Waikar A, Brownstein C, Carpenter TO.
J Bone Miner Res. 2024 Sep 26;39(10):1406-1411. doi: 10.1093/jbmr/zjae137.
PMID:39163488
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
Cinacalcet Reverses Short QT Interval in Familial Hypocalciuric Hypercalcemia Type 1.
Cuny T, Romanet P, Goldsworthy M, Guérin C, Wilkin M, Roche P, Sebag F, van Summeren LE, Stevenson M, Howles SA, Deharo JC, Thakker RV, Taïeb D.
J Clin Endocrinol Metab. 2024 Jan 18;109(2):549-556. doi: 10.1210/clinem/dgad494.
PMID:37602721
[Familial Hypocalciuric Hypercalcemia Type 1 Likely Secondary to a New Inactivating Mutation of CASR].
Zanchelli F, Giudicissi A, Neri L, Sgarlato V, Bruno PF, Ruggeri M, Signorotti S, Apuzzo D, Notaro E, Buscaroli A.
G Ital Nefrol. 2024 Aug 26;41(4):2024-vol4. doi: 10.69097/41-04-2024-06.
PMID:39243411
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