Mycolonus epilepsy with cherry-red spot in adult: a peculiar form of mucopolysaccharidosis. (A clinical genetic, chemical and ultrastructural study).
D000328:Adult; D003241:Consanguinity; D004827:Epilepsy / Q000235:genetics*; D005132:Eye Manifestations; D005260:Female; D006801:Humans; D008064:Lipidoses / Q000235:genetics*; D008099:Liver / Q000473:pathology; D009083:Mucopolysaccharidoses / Q000235:genetics* / Q000473:pathology; D009207:Myoclonus / Q000235:genetics*