- 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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- Multiplex PCR Detection of Waterborne Intestinal Protozoa; Microsporidia, Cyclospora, and Cryptosporidium
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Lee SH, Joung M, Yoon S, Choi K, Park WY, Yu JR
- KMID: 1104695
- Korean J Parasitol.
- 2010 Dec;48(4):297-301.
- doi: 10.3347/kjp.2010.48.4.297
Recently, emerging waterborne protozoa, such as microsporidia, Cyclospora, and Cryptosporidium, have become a challenge to human health worldwide. Rapid, simple, and economical detection methods for these major waterborne protozoa in... -
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- Homozygous VN (677C to T) and d/D (2756G to A) variants in the methylenetetrahydrofolate and methionine synthase genes in a case of hyperhomocysteinemia with stroke at young age
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Song KS, Song JW, Choi JR, Kim HK, Shin JS, Kim JH
- KMID: 1085748
- Exp Mol Med.
- 2001 Jun;33(2):106-109.
Hyperhomocysteinemia is known to be associated with an increased risk of myocardial infarction, stroke, peripheral arterial disease, and venous thrombosis. Gene polymorphisms in methylenetetrahydrofolate reductase (MTHFR) and methionine synthase (MS)... -
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