MULTISYSTEM TRIGLYCERIDE STORAGE DISORDER WITH IMPAIRED LONG-CHAIN FATTY-ACID OXIDATION

被引:56
作者
ANGELINI, C
PHILIPPART, M
BORRONE, C
BRESOLIN, N
CANTINI, M
LUCKE, S
机构
[1] UNIV PADUA,CNR,CTR MUSCLE BIOL & PHYSIOPATHOL,I-35100 PADUA,ITALY
[2] UNIV CALIF LOS ANGELES,MED NUCL RES CTR,LOS ANGELES,CA 90024
[3] GASLINI INST,DIV PEDIATR 3,GENOA,ITALY
关键词
D O I
10.1002/ana.410070104
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:5 / 10
页数:6
相关论文
共 19 条
[1]   CARNITINE DEFICIENCY OF SKELETAL-MUSCLE - REPORT OF A TREATED CASE [J].
ANGELINI, C ;
LUCKE, S ;
CANTARUTTI, F .
NEUROLOGY, 1976, 26 (07) :633-637
[2]   FATAL SYSTEMIC CARNITINE DEFICIENCY WITH LIPID STORAGE IN SKELETAL-MUSCLE, HEART, LIVER AND KIDNEY [J].
BOUDIN, G ;
MIKOL, J ;
GUILLARD, A ;
ENGEL, AG .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :313-325
[3]  
BROWNELL A K W, 1978, Journal of the Neurological Sciences, V35, P31, DOI 10.1016/0022-510X(78)90100-4
[4]   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
[5]   CARNITINE-PALMITYL-TRANSFERASE DEFICIENCY [J].
CUMMING, WJK ;
HARDY, M ;
HUDGSON, P ;
WALLS, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :247-258
[6]   MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY AND MYOGLOBINURIA [J].
DIMAURO, S ;
DIMAURO, PMM .
SCIENCE, 1973, 182 (4115) :929-931
[7]  
DORFMAN ML, 1974, ARCH DERMATOL, V110, P2661
[8]   CARNITINE DEFICIENCY OF HUMAN SKELETAL-MUSCLE WITH ASSOCIATED LIPID STORAGE MYOPATHY - NEW SYNDROME [J].
ENGEL, AG ;
ANGELINI, C .
SCIENCE, 1973, 179 (4076) :899-902
[9]  
ENGFELDT B, 1975, ACTA MED SCAND S585, V198, P15
[10]   LIPID MYOPATHY AND CONGENITAL ICHTHYOSIS - NEW DISORDER, PROBABLY GENETIC [J].
HAYS, AP ;
MIRANDA, AF ;
JOHNSON, W ;
EASTWOOD, AB ;
OLARTE, M ;
MAYEUX, R ;
DIMAURO, S .
JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1976, 35 (03) :346-346