SJOGREN-LARSSON SYNDROME - IMPAIRED FATTY ALCOHOL OXIDATION IN CULTURED FIBROBLASTS DUE TO DEFICIENT FATTY ALCOHOL - NICOTINAMIDE ADENINE-DINUCLEOTIDE OXIDOREDUCTASE ACTIVITY

被引:98
作者
RIZZO, WB [1 ]
DAMMANN, AL [1 ]
CRAFT, DA [1 ]
机构
[1] VIRGINIA COMMONWEALTH UNIV,MED COLL VIRGINIA,DEPT HUMAN GENET,RICHMOND,VA 23298
关键词
D O I
10.1172/JCI113379
中图分类号
R-3 [医学研究方法]; R3 [基础医学];
学科分类号
1001 ;
摘要
引用
收藏
页码:738 / 744
页数:7
相关论文
共 30 条
[1]   MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY-ACID OXIDATION [J].
ANGELINI, C ;
PHILIPPART, M ;
BORRONE, C ;
BRESOLIN, N ;
CANTINI, M ;
LUCKE, S .
ANNALS OF NEUROLOGY, 1980, 7 (01) :5-10
[2]   METACHROMATIC FORM OF DIFFUSE CEREBRAL SCLEROSIS .V. NATURE AND SIGNIFICANCE OF LOW SULFATASE ACTIVITY - A CONTROLLED STUDY OF BRAIN LIVER AND KIDNEY IN 4 PATIENTS WITH METACHROMATIC LEUKODYSTROPHY (MLD) [J].
AUSTIN, J ;
ARMSTRONG, D ;
SHEARER, L .
ARCHIVES OF NEUROLOGY, 1965, 13 (06) :593-+
[3]   SJOGREN-LARSSON SYNDROME - DELTA-5-FATTY AND DELTA-6-FATTY ACID DESATURASES IN SKIN FIBROBLASTS [J].
AVIGAN, J ;
CAMPBELL, BD ;
YOST, DA ;
HERNELL, O ;
HOLMGREN, G ;
JAGELL, SF .
NEUROLOGY, 1985, 35 (03) :401-403
[4]   HARLEQUIN ICHTHYOSIS WITH EPIDERMAL LIPID ABNORMALITY [J].
BUXMAN, MM ;
GOODKIN, PE ;
FAHRENBACH, WH ;
DIMOND, RL .
ARCHIVES OF DERMATOLOGY, 1979, 115 (02) :189-193
[5]   NEUTRAL LIPID STORAGE DISEASE - NEW DISORDER OF LIPID-METABOLISM [J].
CHANARIN, I ;
PATEL, A ;
SLAVIN, G ;
WILLS, EJ ;
ANDREWS, TM ;
STEWART, G .
BRITISH MEDICAL JOURNAL, 1975, 1 (5957) :553-555
[6]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[7]   SJOGREN-LARSSON SYNDROME - REPORT OF 2 CASES IN TWINS [J].
GUILLEMINAULT, C ;
HARPEY, JP ;
LAFOURCADE, J .
NEUROLOGY, 1973, 23 (04) :367-373
[8]   DIGESTION OF HUMAN-MILK LIPIDS - PHYSIOLOGIC SIGNIFICANCE OF SN-2 MONOACYLGLYCEROL HYDROLYSIS BY BILE SALT-STIMULATED LIPASE [J].
HERNELL, O ;
BLACKBERG, L .
PEDIATRIC RESEARCH, 1982, 16 (10) :882-885
[9]  
HOLMGREN G, 1981, CLIN GENET, V20, P64
[10]  
HOOFT C, 1967, HELV PAEDIATR ACTA, V31, P447