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Article

[Sialidosis type I. Two cases in a family].

Archivos de la Sociedad Espanola de Oftalmologia - 1 Sept 2005

Chinchurreta-Capote A, Beltrán-Ureña F J, España-Contreras M

Abstract excerpt

CASE REPORT: We present two cases of sialidosis type 1 in two brothers, 28 and 30 years of age. Both have seizures and severe gait instability. Ophthalmoscopic examination showed a cherry-red spot in both eyes. Fibroblast culture revealed a marked reduction in neuraminidase with no alteration in galactosidase, confirming that our patients have sialidosis type I. CONCLUSIONS: We highlight the ease with which this...

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Identifiers

PMID: 16193438
DOI: 10.4321/s0365-66912005000900009

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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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