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Article

Neuronal ceroid lipofuscinosis caused by MFSD8 mutations: a common theme emerging.

Neurogenetics - 1 Oct 2009

Aldahmesh M A, Al-Hassnan Z N, Aldosari M, Alkuraya F S

Abstract excerpt

Neuronal ceroid lipofuscinoses (NCLs) are a group of lysosomal neurodegenerative disorders that have in common the characteristic accumulation of abnormal storage material. Old clinical classification based on age of onset is now being revisited with the quickly accumulating knowledge of the various genetic defects that underlie this group of genetically heterogeneous disorders. We report our linkage data on a...

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Source

Identifiers

PMID: 19277732
DOI: 10.1007/s10048-009-0185-1

Genes

MFSD8
NCL

Provenance

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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