This website might not be available on Saturday, 21 September 2019, between 08:00 IRST and 18:00 IRST, due to maintenance.
Bioimpacts. 2013;3(4):145-147.
doi: 10.5681/bi.2013.029
PMID: 24455477
PMCID: PMC3892733
Scopus id: 84893428618
  Abstract View: 609
  PDF Download: 458


Lysosomal Storage Diseases: Heterogeneous Group of Disorders

David A. Wenger, Paola Luzi, Mohammad A. Rafi *

1 Department of Neurology, Jefferson Medical College, Philadelphia, Pennsylvanian, USA


The name of lysosomal storage diseases stems from the fact that in this category of disorders specific undegraded materials are stored in the lysosomes. This is usually caused by a lysosomal enzyme deficiency and leads to a cascade of pathological outcomes. Apart from deficiency of lysosomal enzymes, lysosomal storage diseases also include deficiencies in proteins necessary for enzyme functioning, proteins needed for post-translational modification of these enzymes and proteins required for export of certain compounds from the lysosomes.
First name
Last name
Email address
Security code

Article Viewed: 609

Your browser does not support the canvas element.

PDF Downloaded: 458

Your browser does not support the canvas element.

Submitted: 13 Jan 2014
EndNote EndNote

(Enw Format - Win & Mac)

BibTeX BibTeX

(Bib Format - Win & Mac)

Bookends Bookends

(Ris Format - Mac only)

EasyBib EasyBib

(Ris Format - Win & Mac)

Medlars Medlars

(Txt Format - Win & Mac)

Mendeley Web Mendeley Web
Mendeley Mendeley

(Ris Format - Win & Mac)

Papers Papers

(Ris Format - Win & Mac)

ProCite ProCite

(Ris Format - Win & Mac)

Reference Manager Reference Manager

(Ris Format - Win only)

Refworks Refworks

(Refworks Format - Win & Mac)

Zotero Zotero

(Ris Format - FireFox Plugin)