Disease severity in children and adults with Pompe disease related to age and disease duration
Disease severity in children and adults with Pompe disease related to age and disease duration
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DOI：
10.1212/01.wnl.0000165979.46537.56
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发表时间：
2005-06-28
期刊：
影响因子：
9.9
通讯作者：
Van der Ploeg, AT
中科院分区：
文献类型：
--
作者：
Hagemans, MLC;Winkel, LPF;Van der Ploeg, AT
通过问卷调查收集了255名患有庞贝病的儿童和成人的信息。疾病严重程度与病程相关，而与年龄无关；疾病的早期表现意味着较早的轮椅或呼吸机依赖。15岁以下的患者组包括一个病程更严重和更快的亚组。它们需要在发生不可逆转的损害之前进行更密集的随访和早期干预。
Information about 255 children and adults with Pompe disease was gathered through a questionnaire. Disease severity was associated with disease duration and not with age; an early manifestation of the disease implied earlier wheelchair or ventilator dependency. The patient group under age 15 included a subgroup with a more severe and rapid course of the disease. They require more intensive follow-up and early intervention, before irreversible damage has occurred.