- Efficacy and safety of sorafenib in patients with advanced hepatocellular carcinoma
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Heo J
- KMID: 1381445
- Korean J Hepatol.
- 2009 Jun;15(2):227-230.
- doi: 10.3350/kjhep.2009.15.2.227
No abstract available. -
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- Haplotype analysis at R778L mutation of ATP7B gene in Korean patients with Wilson disease
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Jin HS, Oh B
- KMID: 1374957
- Korean J Hepatol.
- 2009 Sep;15(3):295-298.
- doi: 10.3350/kjhep.2009.15.3.295
No abstract available. -
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- A Case of Exercise-induced Acute Renal Failure with G774A Mutation in SCL22A12 Causing Renal Hypouricemia
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Kim YH, Cho JT
- KMID: 1779401
- J Korean Med Sci.
- 2011 Sep;26(9):1238-1240.
- doi: 10.3346/jkms.2011.26.9.1238
Acute renal failure with severe loin pain which develops after anaerobic exercise is rare. One of predisposing factors of exercise-induced acute renal failure is renal hypouricemia. Idiopathic renal hypouricemia is... -
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- ITPKC and SLC11A1 Gene Polymorphisms and Gene-Gene Interactions in Korean Patients with Kawasaki Disease
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Kim KY, Bae YS, Ji W, Shin D, Kim HS, Kim DS
- KMID: 2418858
- Yonsei Med J.
- 2018 Jan;59(1):119-127.
- doi: 10.3349/ymj.2018.59.1.119
PURPOSE: Kawasaki disease (KD) is an acute systemic vasculitis. Both the etiology of KD and the erythema of Bacille Calmette-Guérin (BCG) injection sites observed in the disease are poorly understood.... -
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- Identification of a Novel Mutation in the ATP7A Gene in a Korean Patient with Menkes Disease
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Kim YH, Lee R, Yoo HW, Yum MS, Bae SH, Chung SC, Park YM, Son JS
- KMID: 1094269
- J Korean Med Sci.
- 2011 Jul;26(7):951-953.
- doi: 10.3346/jkms.2011.26.7.951
Menkes disease is an infantile-onset X-linked recessive neurodegenerative disorder caused by diverse mutations in a copper-transport gene, ATP7A. Affected patients are characterized by progressive hypotonia, seizures, failure to thrive and... -
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- Congenital Zinc Deficiency from Mutations of the SLC39A4 Gene as the Genetic Background of Acrodermatitis Enteropathica
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Park CH, Lee MJ, Kim HJ, Lee G, Park JW, Cinn YW
- KMID: 1792911
- J Korean Med Sci.
- 2010 Dec;25(12):1818-1820.
- doi: 10.3346/jkms.2010.25.12.1818
Acrodermatitis enteropathica (AE) is an autosomal recessive disorder with the clinical triad of acral dermatitis, diarrhea and alopecia. AE is known to be caused by mutations of the SLC39A4 gene... -
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- Wilson Disease: an Update
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Seo JK
- KMID: 760667
- Korean J Hepatol.
- 2006 Sep;12(3):333-363.
Wilson disease (WD) is an autosomal recessive disorder of copper transport that results in accumulation of copper primarily in the liver, the brain and the cornea. WD is the most... -
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- Haplotype analysis and possible founder effect at the R778L mutation of the ATP7B gene in Korean patients with Wilson's disease
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Bae SH, Kim JW, Seo JK
- KMID: 1374959
- Korean J Hepatol.
- 2009 Sep;15(3):309-319.
- doi: 10.3350/kjhep.2009.15.3.309
BACKGROUND/AIMS: Wilson's disease (WD) is an inherited disorder of copper metabolism caused by alteration of the P-type adenosine triphosphatase (ATP) 7B gene. In this study, we analyzed the frequency of... -
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