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Article

Prenatal testing for late infantile neuronal ceroid lipofuscinosis.

Annals of neurology - 1 Feb 2000

Berry-Kravis E, Sleat D E, Sohar I, Meyer P, Donnelly R, Lobel P

Abstract excerpt

Classic late infantile neuronal ceroid lipofuscinosis (LINCL) is a neurodegenerative disease in which autofluorescent "curvilinear" storage bodies accumulate in tissues from affected patients. Recently, the LINCL gene (CLN2) has been found to code for a pepstatin-insensitive lysosomal protease whose activity is deficient in LINCL specimens. We report the first 2 cases of successful prenatal testing for LINCL by...

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PMID: 10665500

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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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