Desnick Robert J, Schuchman Edward H
Department of Human Genetics, Mount Sinai School of Medicine at New York University, New York, New York 10029, USA.
Nat Rev Genet. 2002 Dec;3(12):954-66. doi: 10.1038/nrg963.
The past decade has witnessed remarkable advances in our ability to treat inherited metabolic disorders, especially the lysosomal storage diseases, a group of more than 40 disorders, each of which is caused by the deficiency of a lysosomal enzyme or protein. During the past few years, both enzyme replacement and enhancement therapies have been developed to treat these disorders. This review discusses the successes and shortcomings of these therapeutic strategies, and the contributions that they have made to treating lysosomal storage diseases.
在过去十年中，我们在治疗遗传性代谢疾病，尤其是溶酶体贮积症方面取得了显著进展。溶酶体贮积症是一组超过40种的疾病，每种疾病都是由溶酶体酶或蛋白质缺乏引起的。在过去几年中，已经开发出酶替代疗法和增强疗法来治疗这些疾病。本文综述了这些治疗策略的成功与不足，以及它们对治疗溶酶体贮积症所做出的贡献。
