REFSUMS DISEASE (HEREDOPATHIA-ATACTICA-POLYNEURITIFORMIS) - AN INBORN ERROR OF LIPID-METABOLISM WITH STORAGE OF 3,7,11,15-TETRAMETHYLHEXADECANOIC ACID - A REVIEW OF THE CLINICAL-FINDINGS

被引:33
作者
RICHTERICH, R
MOSER, H
ROSSI, E
机构
来源
HUMANGENETIK | 1965年 / 1卷 / 04期
关键词
D O I
10.1007/BF00273974
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:322 / 332
页数:11
相关论文
共 52 条
[1]   REFSUMS SYNDROME AFFECTING A BROTHER AND 2 SISTERS [J].
ASHENHURST, EM ;
MILLAR, JHD ;
MILLIKEN, TG .
BRITISH MEDICAL JOURNAL, 1958, 2 (AUG16) :415-417
[2]   MALFORMATION OF THE ERYTHROCYTES IN A CASE OF ATYPICAL RETINITIS PIGMENTOSA [J].
BASSEN, FA ;
KORNZWEIG, AL .
BLOOD, 1950, 5 (04) :381-387
[3]  
BILLINGS JJ, 1957, T OPHTHAL SOC AUST, V17, P131
[4]  
BOSSU A, 1958, Ann Ocul (Paris), V191, P529
[6]   HEREDOPATHIA ATACTICA POLYNEURITIFORMIS (REFSUMS SYNDROME) [J].
CLARK, DB .
PROCEEDINGS OF THE ROYAL SOCIETY OF MEDICINE-LONDON, 1951, 44 (08) :689-690
[7]  
EDSTROM R, 1959, ACTA PSYCH NEUROL, V34, P40
[8]  
ERDBRINK WL, 1957, ARCH OPHTHALMOL-CHIC, V57, P335
[10]   REFSUMS SYNDROME - AN UNUSUAL HEREDITARY NEUROPATHY [J].
FLEMING, R .
NEUROLOGY, 1957, 7 (07) :476-479