Lysosomal Storage Diseases

Jeremiah A. Lyons; Joseph Alroy

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Lysosomal Storage Diseases

机译：溶酶体贮积病

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Lysosomal storage diseases are a group of inherited and acquired disorders. They are characterized by interruption of recycling of cellular and extracellular molecules. Clinically, they are presented as developmental and neurological symptoms similar to other inherited and acquired disorders. This article reviews the function of lysosomes, the current mechanisms that cause the interruption of recycling, the consequences that are manifested clinically, and the methods to diagnose these disorders.

机译：溶酶体贮积病是一组遗传性和获得性疾病。它们的特征在于中断细胞和细胞外分子的再循环。在临床上，它们表现为与其他遗传性和获得性疾病相似的发育和神经症状。本文介绍了溶酶体的功能，导致循环中断的当前机制，临床表现的后果以及诊断这些疾病的方法。

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《Journal of Inborn Errors of Metabolism & Screening》 |2014年第12期|共页
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Jeremiah A. Lyons; Joseph Alroy;
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Lysosomal Storage Diseases

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