[Refsum's disease].
作者信息
Dry J, Delporte M P, Pradalier A
出版信息
Sem Hop. 1976;52(31-32):1683-90.
PMID:66751
Abstract
Refsum's disease although rare is of great interest for it may benefit at least partially from treatment. Its clinical diagnosis depends on the association of pigmented retinitis, polyneuritis and cerebellar syndrome. It is confirmed beyond doubt by the increased C.S.F. protein and phytanemia. A full family history is necessary for it is possible to detect heterozygous carriers of the defect by enzyme studies on fibroblast cultures.
摘要
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