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Article

Disease pathogenesis explained by basic science: lysosomal storage diseases as autophagocytic disorders.

International journal of clinical pharmacology and therapeutics - 1 Jan 2009

Ballabio A

Abstract excerpt

Lysosomal storage diseases (LSDs) are characterized by intra-lysosomal accumulation of undegraded metabolites due to the defective activity of lysosomal enzymes. There is a paucity of data, however, relating to the mechanisms that link this accumulation with disease pathology. Several LSDs can be attributed to deficiencies in the activity of sulfatase enzymes. The gene responsible for the post-translational...

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Identifiers

PMID: 20040309
DOI: 10.5414/cpp47034

Genes

SUMF1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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