RIBOFLAVIN RESPONSIVE ETHYLMALONIC-ADIPIC ACIDURIA IN A 9-MONTH-OLD BOY WITH LIVER-CIRRHOSIS, MYOPATHY AND ENCEPHALOPATHY

被引:4
作者
BRIVET, M
TARDIEU, M
KHELLAF, A
BOUTRON, A
ROCCHICCIOLI, F
HAENGELI, CA
LEMONNIER, A
机构
[1] HOP CANTONAL GENEVA,CH-1211 GENEVA 4,SWITZERLAND
[2] HOP ST VINCENT DE PAUL,INSERM,U188,F-75674 PARIS 14,FRANCE
[3] HOP BICETRE,SERV NEUROL PEDIAT,F-94275 LE KREMLIN BICETR,FRANCE
关键词
D O I
10.1007/BF01811696
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
[No abstract available]
引用
收藏
页码:333 / 337
页数:5
相关论文
共 8 条
[1]   RIBOFLAVIN RESPONSIVE MULTIPLE ACYL-COA DEHYDROGENATION DEFICIENCY - ASSESSMENT OF 3 YEARS OF RIBOFLAVIN TREATMENT [J].
GREGERSEN, N ;
CHRISTENSEN, MF ;
CHRISTENSEN, E ;
KOLVRAA, S .
ACTA PAEDIATRICA SCANDINAVICA, 1986, 75 (04) :676-681
[2]   RIBOFLAVIN-RESPONSIVE DEFECTS OF BETA-OXIDATION [J].
GREGERSEN, N .
JOURNAL OF INHERITED METABOLIC DISEASE, 1985, 8 :65-69
[3]   A COMPARISON OF [9,10-H-3]PALMITIC AND [9,10-H-3]MYRISTIC ACIDS FOR THE DETECTION OF DEFECTS OF FATTY-ACID OXIDATION IN INTACT CULTURED FIBROBLASTS [J].
MANNING, NJ ;
OLPIN, SE ;
POLLITT, RJ ;
WEBLEY, J .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (01) :58-68
[4]  
MARSHALL T, 1990, IN PRESS 5TH INT C I
[5]   COMPLEMENTATION ANALYSIS OF FATTY-ACID OXIDATION DISORDERS [J].
MOON, A ;
RHEAD, WJ .
JOURNAL OF CLINICAL INVESTIGATION, 1987, 79 (01) :59-64
[6]  
RHEAD W, 1983, PEDIATR RES, V17, pA218
[7]   OXIDATION OF FATTY-ACIDS IN CULTURED FIBROBLASTS - A MODEL SYSTEM FOR THE DETECTION AND STUDY OF DEFECTS IN OXIDATION [J].
SAUDUBRAY, JM ;
COUDE, FX ;
DEMAUGRE, F ;
JOHNSON, C ;
GIBSON, KM ;
NYHAN, WL .
PEDIATRIC RESEARCH, 1982, 16 (10) :877-881
[8]   LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID BETA-OXIDATION [J].
WANDERS, RJA ;
IJLST, L ;
VANGENNIP, AH ;
JAKOBS, C ;
DEJAGER, JP ;
DORLAND, L ;
VANSPRANG, FJ ;
DURAN, M .
JOURNAL OF INHERITED METABOLIC DISEASE, 1990, 13 (03) :311-314