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Article

What can cell biology tell us about heterogeneity in lysosomal storage diseases?

Acta paediatrica (Oslo, Norway : 1992). Supplement - 1 Mar 2005

Gieselmann V

Abstract excerpt

UNLABELLED: Lysosomal storage diseases are clinically heterogeneous with respect to their age of onset, progression of symptoms and the particular organs involved. Varying levels of residual enzyme activity, associated with different defective alleles that cause the respective diseases, are responsible in part for this clinical heterogeneity. In general, the higher the residual enzyme activity, the milder the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 15895717
DOI: 10.1111/j.1651-2227.2005.tb02118.x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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