ATYPICAL PHENOTYPE OF REFSUMS DISEASE - CLINICAL, BIOCHEMICAL, NEUROPHYSIOLOGICAL AND PATHOLOGICAL-STUDY

被引:9
作者
DOTTI, MT
ROSSI, A
RIZZUTO, N
HAYEK, G
BARDELLI, N
BARDELLI, AM
FEDERICO, A
机构
[1] UNIV SIENA,IST SCI NEUROL,PIAZZA DUOMO,I-53100 SIENA,ITALY
[2] UNIV VERONA,CATTEDRA NEUROPATOL,VERONA,ITALY
[3] UNIV SIENA,CATTEDRA FISIOPATOL CEREBROPATIE INFANTILI,I-53100 SIENA,ITALY
[4] UNIV SIENA,CATTEDRA OFTALMOL PEDIAT,I-53100 SIENA,ITALY
关键词
D O I
10.1159/000115767
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:85 / 93
页数:9
相关论文
共 38 条
[1]   A CASE OF REFSUMS DISEASE WITHOUT PERIPHERAL-NERVE INVOLVEMENT - CLINICAL, BIOCHEMICAL, ELECTRO-PHYSIOLOGICAL AND MORPHOLOGICAL ASPECTS [J].
BARBIERI, F ;
SAMMARTINO, A ;
RUSSO, E ;
DECRECCHIO, G .
OPHTHALMOLOGICA, 1983, 186 (02) :71-76
[2]  
BARBIERI F, 1981, Acta Neurologica (Naples), V36, P475
[3]  
BILLIMORIA JD, 1982, LANCET, V1, P194
[4]  
BOROLIN GS, 1979, FORTSCHR NEUROL PSYC, V47, P53
[5]  
BRENTON DP, 1982, LANCET, V1, P624
[6]  
Canestrini L, 1965, Riv Neurol, V35, P295
[7]   FRIEDREICHS ATAXIA - ELECTRO-PHYSIOLOGICAL AND HISTOLOGICAL-FINDINGS [J].
CARUSO, G ;
SANTORO, L ;
PERRETTI, A ;
SERLENGA, L ;
CRISCI, C ;
RAGNO, M ;
BARBIERI, F ;
FILLA, A .
ACTA NEUROLOGICA SCANDINAVICA, 1983, 67 (01) :26-40
[8]  
DANGELO A, 1980, ITAL J NEUROL SCI, V4, P231
[9]   PHYTANIC ACID STORAGE DISEASE - HEARING MAINTAINED AFTER 15 YEARS OF DIETARY-TREATMENT [J].
DJUPESLAND, G ;
FLOTTORP, G ;
REFSUM, S .
NEUROLOGY, 1983, 33 (02) :237-240
[10]  
ELDJARN L, 1966, LANCET, V1, P691