Lysosomal storage disorders.
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.
Qu
Yong
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Department of Genetic Testing, Kaiser Permanente, Southern California, 4580 Electronics Place, Los Angeles, CA 90039, USA. yongqu4580@yahoo.com
D006801:Humans; D016464:Lysosomal Storage Diseases / Q000175:diagnosis / Q000235:genetics / Q000473:pathology