FATTY-ACID OXIDATION DEFECTS

被引:0
作者
VONDOBELN, U
机构
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D O I
10.1111/j.1651-2227.1993.tb12888.x
中图分类号
R72 [儿科学];
学科分类号
100202 ;
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页码:88 / 90
页数:3
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共 12 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]  
BENNETT MJ, 1990, PROG CLIN BIOL RES, V321, P349
[3]   SPECIFIC DIAGNOSIS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY IN DRIED BLOOD SPOTS BY A POLYMERASE CHAIN-REACTION (PCR) ASSAY DETECTING A POINT-MUTATION (G985) IN THE MCAD GENE [J].
GREGERSEN, N ;
BLAKEMORE, AIF ;
WINTER, V ;
ANDRESEN, B ;
KOLVRAA, S ;
BOLUND, L ;
CURTIS, D ;
ENGEL, PC .
CLINICA CHIMICA ACTA, 1991, 203 (01) :23-34
[4]   3-HYDROXYDICARBOXYLIC ACIDURIA - A FATTY-ACID OXIDATION DEFECT WITH SEVERE PROGNOSIS [J].
HAGENFELDT, L ;
VONDOBELN, U ;
HOLME, E ;
ALM, J ;
BRANDBERG, G ;
ENOCKSSON, E ;
LINDEBERG, L .
JOURNAL OF PEDIATRICS, 1990, 116 (03) :387-392
[5]   DEFECTS OF METABOLISM OF FATTY-ACIDS IN THE SUDDEN INFANT DEATH SYNDROME [J].
HOWAT, AJ ;
BENNETT, MJ ;
VARIEND, S ;
SHAW, L ;
ENGEL, PC .
BRITISH MEDICAL JOURNAL, 1985, 290 (6484) :1771-1773
[6]   PREVALENCE OF K329E MUTATION IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE GENE DETERMINED FROM GUTHRIE CARDS [J].
MATSUBARA, Y ;
NARISAWA, K ;
TADA, K ;
IKEDA, H ;
YAO, YQ ;
DANKS, DM ;
GREEN, A ;
MCCABE, ERB .
LANCET, 1991, 338 (8766) :552-553
[7]  
MILLER M, 1992, PROG CLIN BIOL RES, V375, P495
[8]   LONG-CHAIN 3-HYDROXYACYL-COA DEHYDROGENASE-DEFICIENCY [J].
PRZYREMBEL, H ;
JAKOBS, C ;
IJLST, L ;
DEKLERK, JBC ;
WANDERS, RJA .
JOURNAL OF INHERITED METABOLIC DISEASE, 1991, 14 (05) :674-680
[9]  
REYE RDK, 1963, LANCET, V2, P749
[10]  
SINCLAIRSMITH C, 1976, ARCH DIS CHILD, V51, P424, DOI 10.1063/1.30984