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Article

[Clinical, genetic and pathological features of neuronal ceroid lipofuscinosis in 5 Chinese patients].

Zhonghua yi xue za zhi - 22 Nov 2016

Ren S C, Gao B Q, Wang Y J, Wu X J, Tian Z X, Sun Y L

Abstract excerpt

Objective: To report the clinical, genetic and ultrastructural pathological features of neuronal ceroid lipofuscinosis (NCLs) in 5 Chinese patients. Methods: A total of 5 patients with NCLs were collected from 2013 to 2015 diagnosed by the department of pediatrics of Beijing Tian Tan Hospital. Their clinical, electrophysiological and neuroimaging data of the patients were reviewed.A total of 9 underlying genes of...

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Source

Identifiers

PMID: 27903347
DOI: 10.3760/cma.j.issn.0376-2491.2016.43.013

Genes

CLN5
CLN6
MFSD8

Variants

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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