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Electroencephalographic abnormalities in homocystinuria due to cystathionine synthase deficiency.

Abstract：

:Nineteen homocystinuric patients--13 children and 6 adults--were identified in the course of a selective screening for homocystinuria due to cystathionine synthase deficiency. Treatment with high doses (300-1200 mg/day) of pyridoxine was carried out in 17 patients, of whom 15 were completely responsive. In 10 patients EEG abnormalities were observed consisting mainly of a mild diffuse non specific slowing of background activity. In two sisters, with no history of seizures, focal paroxymal activity was also recorded. EEG recordings before and after B6 treatment were available in 16 patients, one of whom was a non responder, during treatment seven normal and six abnormal EEGs showed no change whereas three previously abnormal EEGs were classified as normal.

journal_name

Clin Neurol Neurosurg

journal_title

Clinical neurology and neurosurgery

authors

Del Giudice E,Striano S,Andria G

doi

10.1016/0303-8467(83)90046-x

subject

Has Abstract

pub_date

1983-01-01 00:00:00

pages

165-8

issue

3

eissn

0303-8467

issn

1872-6968

pii

0303-8467(83)90046-X

journal_volume

85

pub_type

杂志文章

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