Mitochondrial very long-chain acyl-CoA dehydrogenase deficiency with a mild clinical course

被引:16
作者
Merinero, B
PerezCerda, C
Garcia, MJ
Gangoiti, J
Font, LM
Silva, MTG
VianeySaban, C
Duran, M
Ugarte, M
机构
[1] UNIV AUTONOMA MADRID,CTR DIAGNOST ENFERMEDADES MOL,DEPT BIOL MOLEC,MADRID,SPAIN
[2] HOSP DOCE OCTUBRE,MADRID,SPAIN
[3] HOP DEBROUSSE,LYON,FRANCE
[4] WILHELMINA CHILDRENS HOSP,UTRECHT,NETHERLANDS
关键词
D O I
10.1007/BF01799422
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:173 / 176
页数:4
相关论文
共 8 条
[1]   PURIFICATION OF HUMAN VERY-LONG-CHAIN ACYL-COENZYME-A DEHYDROGENASE AND CHARACTERIZATION OF ITS DEFICIENCY IN 7 PATIENTS [J].
AOYAMA, T ;
SOURI, M ;
USHIKUBO, S ;
KAMIJO, T ;
YAMAGUCHI, S ;
KELLEY, RI ;
RHEAD, WJ ;
UETAKE, K ;
TANAKA, K ;
HASHIMOTO, T .
JOURNAL OF CLINICAL INVESTIGATION, 1995, 95 (06) :2465-2473
[2]   A NOVEL DISEASE WITH DEFICIENCY OF MITOCHONDRIAL VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE [J].
AOYAMA, T ;
UCHIDA, Y ;
KELLEY, RI ;
MARBLE, M ;
HOFMAN, K ;
TONSGARD, JH ;
RHEAD, WJ ;
HASHIMOTO, T .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1993, 191 (03) :1369-1372
[3]  
BAUMGARTNER ER, 1994, 6 INT C INB ERR MET
[4]   VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID OXIDATION IN FIBROBLASTS [J].
BERTRAND, C ;
LARGILLIERE, C ;
ZABOT, MT ;
MATHIEU, M ;
VIANEYSABAN, C .
BIOCHIMICA ET BIOPHYSICA ACTA, 1993, 1180 (03) :327-329
[5]  
DORLAND L, 1995, 33 ANN S SSIEM TOL, P137
[6]   SYSTEMIC CARNITINE DEFICIENCY - BENEFIT OF ORAL CARNITINE SUPPLEMENTS VS PERSISTING BIOCHEMICAL-ABNORMALITIES [J].
DURAN, M ;
DEKLERK, JBC ;
WADMAN, SK ;
SCHOLTE, HR ;
BEEKMAN, RP ;
JENNEKENS, FGI .
EUROPEAN JOURNAL OF PEDIATRICS, 1984, 142 (03) :224-228
[7]  
MCGARRY JD, 1976, J LIPID RES, V17, P277
[8]  
VIANEYSABAN C, 1994, 32 ANN S SSIEM ED