title: A case of Refsum disease with atypical clinical picture in family members.
abstract: A typical case of Refsum disease with high phytanic acid plasma levels is described. Two siblings showed some features but not the entire clinical spectrum of the disease. The unusual condition of the patient's father, a presumed heterozygotic carrier with characteristic bone abnormalities and a delayed onset retinopathy, is discussed.
authors: Istituto Nazionale Neurologico C. Besta, Milano.
authors: R
authors: R
authors: Marano
authors: P
authors: P
authors: Soliveri
authors: B
authors: B
authors: Garavaglia
authors: A
authors: A
authors: Antonelli
authors: F
authors: F
authors: Girotti
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D004537:Eicosanoic Acids / Q000097:blood*; D005260:Female; D006801:Humans; D008297:Male; D008875:Middle Aged; D010831:Phytanic Acid / Q000097:blood*; D012035:Refsum Disease / Q000097:blood / Q000235:genetics* / Q000503:physiopathology
chemical_list: D004537:Eicosanoic Acids; D010831:Phytanic Acid