- Case Report
- Two cases of Fabry disease identified in brothers
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Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee
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Clin Exp Pediatr. 2010;53(2):235-238. Published online February 15, 2010
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Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the α-galactosidase A (GLA) enzyme. We report two cases of Fabry disease in a 12-year-old boy who had acroparesthesia and in his elder brother with milder symptoms who were diagnosed by GLA activity assays and the presence of the GLA gene... |
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- Original Article
- A study of the frequency and characteristics of minor clinical manifestations in children with atopic dermatitis
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Ji Eun Cho, You Hoon Jeon, Hyeon Jong Yang, Bok Yang Pyun
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Clin Exp Pediatr. 2009;52(7):818-823. Published online July 15, 2009
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Purpose : We aimed to evaluate the frequency and characteristics of minor clinical manifestations of atopic dermatitis (AD) in Korean children to aid the diagnosis and treatment of AD.
Methods : From April 2007 to December 2007, we enrolled 106 children (aged 1 month [infants] to 15 years) diagnosed with AD at the Pediatric Allergy Respiratory Center in Soonchunhyang University Hospital.... |
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