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inborn lysosomal disease

 

Definition: inherited disorder of one or more degradative enzymes normally located in lysosomes leading to accumulation (storage) of abnormal quantities of a substance, such as a glycosaminoglycan as in Hurler syndrome or a lipopolysaccharide as in Gaucher disease.

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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