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 language||English (US)|
|Number of pages||8|
|State||Published - Jan 1 1973|
ASJC Scopus subject areas
- Clinical Neurology