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Article

First report of two Taiwanese siblings with sialidosis type I: a 10-year follow-up study.

Journal of the neurological sciences - 15 Aug 2006

Chen Chiung-Mei, Lai Szu-Chia, Chen I-Cheng, Hsu Kai-Cheng, Lyu Rong-Kuo, Ro Long-Sun, Chang Hong-Shiu

Abstract excerpt

We report the clinical features, electrophysiological findings and genetic characteristics of the first two Taiwanese siblings ever reported with sialidosis type I. We also provide a 10-year follow-up result. Enzymological analysis revealed a primary sialidase deficit. The back-averaged electroencephalography demonstrated myoclonic jerk-related cortical activities and the somatosensory evoked potential studies...

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Source

Identifiers

PMID: 16712870
DOI: 10.1016/j.jns.2006.03.013

Genes

NEU1

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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