Neurologic complications of Gaucher's disease, type 3.
We discuss the clinical features of two patients with type 3 Gaucher's disease. Glucocerebroside levels in liver biopsy specimens were measured in both patients and the findings are discussed in regard to the pathogenesis of the disease.
D000135:Acid Phosphatase / Q000378:metabolism; D000293:Adolescent; D000328:Adult; D004831:Epilepsies, Myoclonic / Q000209:etiology*; D005776:Gaucher Disease / Q000150:complications* / Q000201:enzymology / Q000235:genetics; D005963:Glucosylceramides / Q000378:metabolism; D006801:Humans; D008099:Liver / Q000201:enzymology; D008297:Male; D009207:Myoclonus / Q000209:etiology*
D005963:Glucosylceramides; D000135:Acid Phosphatase