- Autosomal Dominant Hypocalcemia Caused by an Activating Mutation of the Calcium-Sensing Receptor Gene: The First Case Report in Korea
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Kim MY, Tan AH, Ki CS, Lee JI, Jang HW, Shin HW, Kim SW, Min YK, Lee MS, Lee MK, Kim KW, Chung JH
- KMID: 1779268
- J Korean Med Sci.
- 2010 Feb;25(2):317-320.
- doi: 10.3346/jkms.2010.25.2.317
Hypoparathyroidism is an abnormality of calcium metabolism characterized by low serum levels of parathyroid hormone in spite of hypocalcemia. The causes of hypoparathyroidism are numerous. Activating mutations in the calcium-sensing... -
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- A Case Report of Familial Benign Hypocalciuric Hypercalcemia: A Mutation in the Calcium-Sensing Receptor Gene
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Woo SI, Song H, Song KE, Kim DJ, Lee KW, Kim SJ, Chung YS
- KMID: 1110751
- Yonsei Med J.
- 2006 Apr;47(2):255-258.
- doi: 10.3349/ymj.2006.47.2.255
Familial benign hypocalciuric hypercalcemia (FBHH) is an autosomal dominant trait with high penetrance, clinically manifestating a relatively benign, lifelong, persistent hypercalcemia and hypocalciuria without hypercalcemic related complications. The calcium-sensing receptor... -
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- Genetic and Clinical Characteristics of Korean Patients with Isolated Hypoparathyroidism: From the Korean Hypopara Registry Study
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Park SY, Eom YS, Choi B, Yi HS, Yu SH, Lee K, Jin HS, Chung YS, Jung TS, Lee S
- KMID: 1777686
- J Korean Med Sci.
- 2013 Oct;28(10):1489-1495.
- doi: 10.3346/jkms.2013.28.10.1489
Isolated hypoparathyroidism (IH) shows heterogeneous phenotypes and can be caused by defects in a variety of genes. The goal of our study was to determine the clinical features and to... -
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