首页 > 按专业查询名词 > 查询PubMed相关文献
名词信息
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.
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
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
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
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
Persistent hypercalcemia with similar familial Hypocalciuric hypercalcemia features: a case report and literature review.
Zahedi M, Hizomi Arani R, Rafati M, Amouzegar A, Hadaegh F.
BMC Endocr Disord. 2021 Nov 4;21(1):220. doi: 10.1186/s12902-021-00881-9.
PMID:34736428
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
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
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
© Copyright 2021 鸿泰茂源  版权所有All Rights Reserved京ICP备11040441号-3