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从黏多糖贮积症患者家庭视角看黏多糖贮积症——“奥地利黏多糖贮积症协会”的十年经验

[Mucopolysaccharidoses from the view point of mucopolysaccharidoses families--10 years' experiences of the "Austrian Society for Mucopolysaccharidoses"].

作者信息

Fang-Kircher S, Kraft M

机构信息

Institut für Medizinische Chemie der Universität Wien.

出版信息

Wien Klin Wochenschr. 1996;108(2):29-32.

PMID:8835429
Abstract

The mucopolysaccharidoses (MPS) are rare inborn errors of metabolism. They are caused by defects in enzymes which are necessary for the degradation of mucopolysaccharides. An effective causal treatment is not available as yet. Nevertheless, it is the duty of the doctor, both from the medical and human aspect to assist MPS patients and their families physically and psychologically over many years. This task needs much empathy, working morale and knowledge of these diseases on the part of the medical adviser involved, but also demonstrates the limitations of active medical treatment. Since 10 years the "Austrian Society for Mucopolysaccharidoses" has tried to fill the gap between the MPS families' need for help and the still discouraging current medical treatment prospectives.

摘要

黏多糖贮积症(MPS)是罕见的先天性代谢缺陷病。它们是由黏多糖降解所必需的酶的缺陷引起的。目前尚无有效的病因治疗方法。然而,从医学和人文角度出发,医生有责任在多年时间里为MPS患者及其家庭提供身体和心理上的帮助。这项任务需要相关医学顾问具备极大的同理心、工作热情以及对这些疾病的了解,但同时也显示出积极医学治疗的局限性。十年来,“奥地利黏多糖贮积症协会”一直试图填补MPS患者家庭的求助需求与目前仍令人沮丧的医学治疗前景之间的差距。

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