CLINICAL-DIAGNOSIS OF LONG-CHAIN ACYL-COENZYME A-DEHYDROGENASE DEFICIENCY - USE OF STRESS AND FAT-LOADING TESTS

被引:16
作者
PARINI, R
GARAVAGLIA, B
SAUDUBRAY, JM
BARDELLI, P
MELOTTI, D
ZECCA, G
DIDONATO, S
机构
[1] UNIV MILAN, DEPT PEDIAT 2, I-20122 MILAN, ITALY
[2] IST CLIN PERFEZIONAMENTO, METABOL DIS LAB, MILAN, ITALY
[3] IST NEUROCHIRURG C BESTA, BIOCHEM & GENET LAB, I-20133 MILAN, ITALY
[4] OSPED MORBEGNO, DEPT PEDIAT, SONDRIO, ITALY
[5] HOP NECKER ENFANTS MALAD, DEPT CLIN GENET, F-75730 PARIS 15, FRANCE
关键词
D O I
10.1016/S0022-3476(05)81044-3
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
[No abstract available]
引用
收藏
页码:77 / 80
页数:4
相关论文
共 10 条
[1]   ACYLCOENZYME-A DEHYDROGENASE-DEFICIENCY IN HEART-TISSUE FROM INFANTS WHO DIED UNEXPECTEDLY WITH FATTY CHANGE IN THE LIVER [J].
ALLISON, F ;
BENNETT, MJ ;
VARIEND, S ;
ENGEL, PC .
BRITISH MEDICAL JOURNAL, 1988, 296 (6614) :11-12
[2]   THE FASTING TEST IN PEDIATRICS - APPLICATION TO THE DIAGNOSIS OF PATHOLOGICAL HYPOKETOTIC AND HYPERKETOTIC STATES [J].
BONNEFONT, JP ;
SPECOLA, NB ;
VASSAULT, A ;
LOMBES, A ;
OGIER, H ;
DEKLERK, JBC ;
MUNNICH, A ;
COUDE, M ;
PATURNEAUJOUAS, M ;
SAUDUBRAY, JM .
EUROPEAN JOURNAL OF PEDIATRICS, 1990, 150 (02) :80-85
[3]   BIOCHEMICAL-STUDIES ON CULTURED SKIN FIBROBLASTS FROM A BABY WITH LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING AS SUDDEN NEONATAL DEATH [J].
CHALMERS, RA ;
ENGLISH, N ;
HUGHES, EA ;
NOBLEJAMIESON, C ;
WIGGLESWORTH, JS .
JOURNAL OF INHERITED METABOLIC DISEASE, 1987, 10 :260-262
[4]  
DIDONATO S, 1986, NEUROLOGY, V36, P957
[5]  
DIDONATO S, 1984, NEUROLOGY, V34, P157, DOI 10.1212/WNL.34.2.157
[6]   FLUOROMETRIC ASSAY OF ACYL-COA DEHYDROGENASES IN NORMAL AND MUTANT HUMAN-FIBROBLASTS [J].
FRERMAN, FE ;
GOODMAN, SI .
BIOCHEMICAL MEDICINE, 1985, 33 (01) :38-44
[7]   LONG-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY - AN INHERITED CAUSE OF NONKETOTIC HYPOGLYCEMIA [J].
HALE, DE ;
BATSHAW, ML ;
COATES, PM ;
FRERMAN, FE ;
GOODMAN, SI ;
SINGH, I ;
STANLEY, CA .
PEDIATRIC RESEARCH, 1985, 19 (07) :666-671
[8]  
Naylor E W, 1980, J Inherit Metab Dis, V3, P19, DOI 10.1007/BF02312518
[10]   URINARY DICARBOXYLIC-ACIDS IN REYE SYNDROME [J].
TONSGARD, JH .
JOURNAL OF PEDIATRICS, 1985, 107 (01) :79-84