RECURRENT MYOGLOBINURIA AND MUSCLE CARNITINE PALMITYL TRANSFERASE DEFICIENCY - EVIDENCE OF A MUTANT CARNITINE PALMITYL TRANSFERASE IN 2 BROTHERS

被引:0
作者
DUPOND, JL
MOUSSON, B
GUERBER, F
HUMBERT, P
MAIRE, I
GIBEY, R
机构
[1] CHU JEAN MINJOZ,BIOCHIM LAB,F-25030 BESANCON,FRANCE
[2] HOP DEBROUSSE,BIOCHIM LAB,F-69322 LYON 05,FRANCE
来源
PRESSE MEDICALE | 1988年 / 17卷 / 41期
关键词
D O I
暂无
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:2187 / 2190
页数:4
相关论文
共 27 条
[1]   CARNITINE PALMITYL TRANSFERASE DEFICIENCY - CLINICAL VARIABILITY, CARRIER DETECTION, AND AUTOSOMAL-RECESSIVE INHERITANCE [J].
ANGELINI, C ;
FREDDO, L ;
BATTISTELLA, P ;
BRESOLIN, N ;
PIEROBONBORMIOLI, S ;
ARMANI, M ;
VERGANI, L .
NEUROLOGY, 1981, 31 (07) :883-886
[2]   DISORDER OF MUSCLE LIPID-METABOLISM AND MYOGLOBINURIA - ABSENCE OF CARNITINE PALMITYL TRANSFERASE [J].
BANK, WJ ;
DIMAURO, S ;
BONILLA, E ;
CAPUZZI, DM ;
ROWLAND, LP .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (09) :443-449
[3]  
BERTORINI T, 1980, NEUROLOGY, V30, P263, DOI 10.1212/WNL.30.3.263
[4]  
BREMER J, 1967, J BIOL CHEM, V242, P1744
[5]  
CAROLL JE, 1978, MUSCLE NERVE, V1, P103
[6]  
COLOMBO E, 1984, MED-RIV ENC MED ITAL, V4, P51
[7]   CARNITINE-PALMITYL-TRANSFERASE DEFICIENCY [J].
CUMMING, WJK ;
HARDY, M ;
HUDGSON, P ;
WALLS, J .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1976, 30 (2-3) :247-258
[8]  
DAAE LNW, 1970, BIOCHIM BIOPHYS ACTA, V210, P92
[9]   HETEROGENEITY OF CARNITINE-PALMITOYLTRANSFERASE DEFICIENCY [J].
DIDONATO, S ;
CASTIGLIONE, A ;
RIMOLDI, M ;
CORNELIO, F ;
VENDEMIA, F ;
CARDACE, G ;
BERTAGNOLIO, B .
JOURNAL OF THE NEUROLOGICAL SCIENCES, 1981, 50 (02) :207-215
[10]   MUSCLE CARNITINE PALMITYLTRANSFERASE DEFICIENCY - CASE WITH ENZYME DEFICIENCY IN CULTURED FIBROBLASTS [J].
DIDONATO, S ;
CORNELIO, F ;
PACINI, L ;
PELUCHETTI, D ;
RIMOLDI, M ;
SPREAFICO, S .
ANNALS OF NEUROLOGY, 1978, 4 (05) :465-467