Myoclonus epilepsy with cherry red spot in adult: A peculiar form of mucopolysaccharidosis. (A clinical, genetical, chemical and ultrastructural study)

G. C. Guazzi, B. Ghetti, F. Barbieri, A. Cecio

Research output: Contribution to journalArticle

16 Scopus citations

Abstract

A 28 yr old woman born of a consanguineous marriage suffered from myoclonus epilepsy with cherry red spot in the fundus oculi. The histochemical, ultrastructural and biochemical results obtained from liver biopsy, as well as the urinary pattern of mucopolysaccharides, suggest a particular form of mucopolysaccharidosis.

Original languageEnglish (US)
Pages (from-to)542-549
Number of pages8
JournalActa Neurologica
Volume28
Issue number5
StatePublished - Jan 1 1973
Externally publishedYes

ASJC Scopus subject areas

  • Clinical Neurology

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