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Article

Infantile neuronal ceroid lipofuscinosis: no longer just a 'Finnish' disease.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jan 2001

Hofmann S L, Das A K, Lu J Y, Wisniewski K E, Gupta P

Abstract excerpt

The neuronal ceroid lipofuscinoses (NCLs) are a group of enigmatic neurodegenerative disorders of children that have in common the storage of autofluorescent lipofuscin, or aging pigment, in the brain. With the identification of the three major genes involved in the disorder, the NCLs are now appreciated to represent true lysosomal storage disorders. The most severe (infantile) form of NCL is caused by mutations...

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Identifiers

PMID: 11589007
DOI: 10.1053/ejpn.2000.0434

Genes

NCL

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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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