Lysosomal storage disorders.

Yong, Qu

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Article . 2014

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Lysosomal storage disorders.

descriptionPublicationkeyboard_double_arrow_right Article 28 Apr 2014 English Journal:Beijing da xue xue bao. Yi xue ban = Journal of Peking University. Health sciences, volume 38 (issn: 1671-167X,

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Authors: Yong, Qu;

pmid: 16415978

Lysosomal storage disorders.

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Abstract

Lysosomal storage disorders (LSDs) are genetic defects caused by lysosomal hydrolase deficiencies. These deficiencies lead to substrate accumulation affecting cells, tissues and organs. Detecting abnormal compound excretion and deficient enzymes assist diagnosis of these disorders for treatment and prevention. This mini review summarizes clinical presentations and diagnostic workup of LSDs and updates the new development in the area.

Keywords

Lysosomal Storage Diseases, Humans

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