杜氏营养不良症的临床-进化考虑

Q4 Medicine Revista Romana de Pediatrie Pub Date : 2023-03-31 DOI:10.37897/rjp.2023.1.1
C. Singer, S. Coşoveanu, I. Petrescu, M. Singer, A. Dobrescu, M. Popescu, A. Popescu
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引用次数: 0

摘要

杜兴肌营养不良(DMD)是一种严重的、进行性的、无法治愈的X连锁遗传病。这篇文章介绍了2016-2022年间在克雷奥瓦县急诊县医院第二儿科诊所收治的18名DMD儿童。这项研究着眼于:根据居住地的分布、他们走路时的平均年龄、被诊断时和坐在轮椅上走路时的年龄、先天性和病理性前因、临床表现、营养状况、基因测试和这些患者的进化。
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Clinical-evolutionary considerations in Duchenne Dystrophy
Duchenne muscular dystrophy (DMD) is a severe, progressive and incurable X-linked genetic disorder. The article presents 18 children with DMD admitted between 2016-2022 in the Pediatric Clinic II, Emergency County Hospital in Craiova. The study looked at: the distribution according to residence, the average age when they walked, when they were diagnosed and when they walked in a wheelchair, heredocollateral and pathological antecedents, clinical manifestations, nutritional status, genetic tests and the evolution of these patients.
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CiteScore
0.10
自引率
0.00%
发文量
15
审稿时长
4 weeks
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