title: Neurologic manifestations of homocystinuria.
abstract: Recognition of the disease homocystinuria by the neurologist may be of importance as is illustrated in the dramatic case history of a 20 year old woman. Confusion with Marfan's syndrome frequently occurs. The clinical and pathologic anatomical features are described. A review of the literature is given and the use of contraceptives is discussed.
mesh_terms: D000328:Adult; D003937:Diagnosis, Differential; D004479:Ectopia Lentis / Q000209:etiology; D005260:Female; D006712:Homocystinuria / Q000150:complications* / Q000175:diagnosis / Q000188:drug therapy; D006801:Humans; D008607:Intellectual Disability / Q000209:etiology; D008382:Marfan Syndrome / Q000175:diagnosis; D010024:Osteoporosis / Q000209:etiology; D011379:Prognosis; D011736:Pyridoxine / Q000627:therapeutic use; D013923:Thromboembolism / Q000209:etiology
chemical_list: D011736:Pyridoxine