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Article

[Genetics of neuronal ceroidlipofuscinoses. Aspects of genetic counseling].

Der Ophthalmologe : Zeitschrift der Deutschen Ophthalmologischen Gesellschaft - 1 Jul 2010

Preising M N, Lorenz B

Abstract excerpt

Neuronal ceroid lipofuscinoses are autosomal recessive inherited disorders of neuronal cells. Neuronal ceroid lipofuscinoses belong to the lysosomal storage disorders and are characterized by accumulation of protein-lipid complexes in the lysosomal compartments of all somatic cells. This debris causes degenerative activities in the nervous system, especially in the cerebrum, the cerebellum and the afferent and...

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Identifiers

PMID: 20532525
DOI: 10.1007/s00347-009-2107-x

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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