Journal of Inborn Errors of Metabolism and Screening · 2014 · 32 citations · 13 references
Life SciencesBiochemistryGeneticsCellular PathologyEnzymologyMolecular PathologyEndomembrane SystemLysosomal BiochemistryLysosomal DegradationLysosomal Storage DisordersLysosome BiologyHydrolytic EnzymesLysosomal Protein DegradationLysosomal ProteolysisProtein Degradation In Lysosomes
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.
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α-Galactosidase A deficiency. Fabry disease
R J Desnick · Medical Entomology and Zoology · 2001 · 581 citations
[Niemann-Pick disease [type A and B] (acid sphingomyelinase deficiencies)].
Kazutaka Higaki, K Ohno · PubMed · 1998 · 172 citations
Michael N. Hart · Journal of Neuropathology & Experimental Neurology · 2008 · 145 citations
Medicine, Neuroscience, Pathology +12