دورية أكاديمية
Two cases of Fabry disease identified in brothers
| العنوان: | Two cases of Fabry disease identified in brothers |
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| المؤلفون: | Ji Eun Cho, Yong Hee Hong, Yang Gyun Lee, Han Wook Yoo, Dong Hwan Lee |
| المصدر: | Korean Journal of Pediatrics, Vol 53, Iss 2, Pp 235-238 (2010) |
| بيانات النشر: | Korean Pediatric Society, 2010. |
| سنة النشر: | 2010 |
| المجموعة: | LCC:Pediatrics |
| مصطلحات موضوعية: | Pediatrics, RJ1-570 |
| الوصف: | Fabry disease is a rare, X-linked inborn error of glycosphingolipid catabolism caused by a mutation in the gene encoding the ?#7015;alactosidase 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 mutation. |
| نوع الوثيقة: | article |
| وصف الملف: | electronic resource |
| اللغة: | English |
| تدمد: | 1738-1061 2092-7258 |
| Relation: | http://www.kjp.or.kr/upload/2010530219-20100343101843.PDF; https://doaj.org/toc/1738-1061; https://doaj.org/toc/2092-7258 |
| DOI: | 10.3345/kjp.2010.53.2.235 |
| URL الوصول: | https://doaj.org/article/c6bf8e82876b4f31b5506cf8f553cc79 |
| رقم الأكسشن: | edsdoj.6bf8e82876b4f31b5506cf8f553cc79 |
| قاعدة البيانات: | Directory of Open Access Journals |
Full Text Finder | تدمد: | 17381061 20927258 |
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| DOI: | 10.3345/kjp.2010.53.2.235 |