- PHEX Gene Mutations and Genotype-Phenotype Analysis of Korean Patients with Hypophosphatemic Rickets
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Song HR, Park JW, Cho DY, Yang JH, Yoon HR, Jung SC
- KMID: 1785757
- J Korean Med Sci.
- 2007 Dec;22(6):981-986.
- doi: 10.3346/jkms.2007.22.6.981
X-linked hypophosphatemic rickets (XLH) results from mutations in the PHEX gene. Mutational analysis of the PHEX gene in 15 unrelated Korean patients with hypophosphatemic rickets revealed eight mutations, including five... -
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- Novel Compound Heterozygous Mutations in the Vitamin D Receptor Gene in a Korean Girl with Hereditary Vitamin D Resistant Rickets
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Song JK, Yoon KS, Shim KS, Bae CW
- KMID: 1777854
- J Korean Med Sci.
- 2011 Aug;26(8):1111-1114.
- doi: 10.3346/jkms.2011.26.8.1111
Hereditary vitamin D resistant rickets (HVDRR) is a rare genetic disorder caused by a mutation of vitamin D receptor (VDR) gene. A number of cases had been reported in many... -
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- A Case of Fanconi-Bickel Syndrome with Mild Clinical Signs
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Kim SM, Yoo HW, Kim HW
- KMID: 2267816
- Korean J Med.
- 2013 Aug;85(2):210-213.
Fanconi-Bickel syndrome is a rare autosomal recessive disorder caused by a mutation in the facilitative glucose transporter 2 gene (GLUT2 or SLC2A2 gene) that codes for the glucose transporter protein... -
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- Successful Treatment of Alopecia Areata with Topical Calcipotriol
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Kim DH, Lee JW, Kim IS, Choi SY, Lim YY, Kim HM, Kim BJ, Kim MN
- KMID: 2265308
- Ann Dermatol.
- 2012 Aug;24(3):341-344.
- doi: 10.5021/ad.2012.24.3.341
Alopecia areata (AA) is an inflammatory hair loss of unknown etiology. AA is chronic and relapsing, and no effective cure or preventive treatment has been established. Vitamin D was recently... -
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