MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY PRESENTING IN THE NEONATAL-PERIOD - THE FIRST ITALIAN CASE

被引:2
作者
BURLINA, AB
BENNETT, MJ
GREGERSEN, N
BARBA, BD
ZACCHELLO, F
机构
[1] AARHUS UNIV,AARHUS KOMMUNE HOSP,DEPT CLIN CHEM,GENET MOLEC LAB,DK-8000 AARHUS,DENMARK
[2] SKEJBY SYGEHUS,DK-8200 AARHUS,DENMARK
[3] UNIV TEXAS,SW MED CTR,CHILDRENS MED CTR,DEPT PATHOL,DALLAS,TX 75235
关键词
D O I
10.1007/BF01957515
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:940 / 941
页数:2
相关论文
共 5 条
[1]  
BENNETT MJ, 1994, CLIN CHIM ACTA, V226, P221
[2]   EARLY DIAGNOSIS AND TREATMENT OF NEONATAL MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - REPORT OF 2 SIBLINGS [J].
CATZEFLIS, C ;
BACHMANN, C ;
HALE, DE ;
COATES, PM ;
WIESMANN, U ;
COLOMBO, JP ;
JORIS, F ;
DELEZE, G .
EUROPEAN JOURNAL OF PEDIATRICS, 1990, 149 (08) :577-581
[3]   MEDIUM-CHAIN ACYL-COA DEHYDROGENASE (MCAD) DEFICIENCY - THE PREVALENT MUTATION G985 (K304E) IS SUBJECT TO A STRONG FOUNDER EFFECT FROM NORTHWESTERN EUROPE [J].
GREGERSEN, N ;
WINTER, V ;
CURTIS, D ;
DEUFEL, T ;
MACK, M ;
HENDRICKX, J ;
WILLEMS, PJ ;
PONZONE, A ;
PARELLA, T ;
PONZONE, R ;
DING, JH ;
ZHANG, W ;
CHEN, YT ;
KAHLER, S ;
ROE, CR ;
KOLVRAA, S ;
SCHNEIDERMAN, K ;
ANDRESEN, BS ;
BROSS, P ;
BOLUND, L .
HUMAN HEREDITY, 1993, 43 (06) :342-350
[4]   MEDIUM-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - CLINICAL COURSE IN 120 AFFECTED CHILDREN [J].
IAFOLLA, AK ;
THOMPSON, RJ ;
ROE, CR .
JOURNAL OF PEDIATRICS, 1994, 124 (03) :409-415
[5]   NEONATAL SYMPTOMS IN MEDIUM-CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY [J].
WILCKEN, B ;
CARPENTER, KH ;
HAMMOND, J .
ARCHIVES OF DISEASE IN CHILDHOOD-FETAL AND NEONATAL EDITION, 1993, 69 (03) :292-294