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Clinical study in Chinese patients with late-infantile form neuronal ceroid lipofuscinoses.

Brain & development - 1 Oct 2012

Chang Xingzhi, Huang Yu, Meng Hongdi, Jiang Yuwu, Wu Ye, Xiong Hui, Wang Shuang, Qin Jiong

Abstract excerpt

Clinical findings, pathological features and tripeptidyl peptidase 1 (TPP1) activity and genetic mutation analysis data of nine patients affected with the late-infantile form of neuronal ceroid lipofuscinoses (LINCL) in China are systematically reviewed with long-term follow-up. The patients were enrolled if curvilinear bodies were found on lymphocyte, skin or muscle specimens' examination, and/or reduction of...

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Source

Identifiers

PMID: 22245569
DOI: 10.1016/j.braindev.2011.12.005

Genes

TPP1

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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