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早期使用酶替代疗法是否改变黏多糖贮积症 I 的自然病程?三兄弟姊妹的经验。

Does early use of enzyme replacement therapy alter the natural history of mucopolysaccharidosis I? Experience in three siblings.

机构信息

Genetic Medicine, Manchester Academic Health Science Centre, University of Manchester, Central Manchester University Hospitals NHS Foundation Trust, St. Mary's Hospital, Oxford Road, Manchester M13 9WL, UK.

出版信息

Mol Genet Metab. 2013 Jul;109(3):315-6. doi: 10.1016/j.ymgme.2013.04.023. Epub 2013 May 10.

Abstract

Enzyme replacement therapy is widely used as treatment for mucopolysaccharidosis I (MPS I), and there is evidence that this produces improvement in certain clinical domains. There does appear to be variation in the response of clinical features to treatment once these are established. In a reported sibling pair, when enzyme replacement therapy was commenced pre-symptomatically in the younger child, the natural history of the condition appeared to be affected. We present data from three siblings treated with enzyme replacement therapy at different ages which supports this finding.

摘要

酶替代疗法被广泛应用于黏多糖贮积症 I 型(MPS I)的治疗,有证据表明,这种疗法可改善某些临床领域的症状。在某些已确立的临床特征中,治疗的反应似乎存在差异。在一对报道的同胞中,当年轻的孩子在出现症状前开始接受酶替代疗法时,疾病的自然病程似乎受到了影响。我们报告了三例不同年龄接受酶替代疗法治疗的同胞的数据,这些数据支持了这一发现。

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