DIAGNOSIS OF MEDIUM CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN THE NEWBORN

被引：3
|
作者：
WALKER, V [1 ]
MILLS, GA [1 ]
RADFORD, M [1 ]
机构：
[1] UNIV SOUTHAMPTON,SOUTHAMPTON GEN HOSP,DEPT CHILD HLTH,SOUTHAMPTON S09 4XY,ENGLAND
来源：
LANCET | 1990年 / 335卷 / 8700期
关键词：
D O I：
10.1016/0140-6736(90)91363-F
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
引用
下载
收藏
页码：1288 / 1289
页数：2
相关论文
共 50 条
  • [21] MOLECULAR CHARACTERIZATION OF INHERITED MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    KELLY, DP
    WHELAN, AJ
    OGDEN, ML
    ALPERS, R
    ZHANG, ZF
    BELLUS, G
    GREGERSEN, N
    DORLAND, L
    STRAUSS, AW
    PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1990, 87 (23) : 9236 - 9240
  • [22] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY REVEALED BY GENERALIZED SEIZURES
    CHABROL, B
    MANCINI, J
    BERTRAND, C
    VIANEYSABAN, C
    DIVRY, P
    LIVET, MO
    PINSARD, N
    ARCHIVES FRANCAISES DE PEDIATRIE, 1993, 50 (06): : 497 - 500
  • [23] NOVEL GLYCINE CONJUGATES IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    PITT, JJ
    JOURNAL OF INHERITED METABOLIC DISEASE, 1993, 16 (02) : 392 - 398
  • [24] IMMUNOREACTIVE ENZYME PROTEIN IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    OGILVIE, I
    JACKSON, S
    BARTLETT, K
    TURNBULL, DM
    BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1991, 46 (03): : 373 - 379
  • [25] IDENTIFICATION OF A NEW MUTATION IN MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    DING, JH
    ROE, CR
    YANG, BZ
    BAO, Y
    CHEN, YT
    AMERICAN JOURNAL OF HUMAN GENETICS, 1991, 49 (04) : 403 - 403
  • [26] MOLECULAR LESION IN PATIENTS WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    MATSUBARA, Y
    NARISAWA, K
    MIYABAYASHI, S
    TADA, K
    COATES, PM
    LANCET, 1990, 335 (8705): : 1589 - 1589
  • [27] HETEROGENEITY FOR MUTATIONS IN MEDIUM CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN THE UK POPULATION
    CURTIS, D
    BLAKEMORE, AIF
    ENGEL, PC
    MACGREGOR, D
    BESLEY, G
    KOLVRAA, S
    GREGERSEN, N
    CLINICAL GENETICS, 1991, 40 (04) : 283 - 286
  • [28] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - A USEFUL DIAGNOSIS 5 YEARS AFTER DEATH
    BENNETT, MJ
    POLLITT, RJ
    TAITZ, LS
    VARIEND, S
    CLINICAL CHEMISTRY, 1990, 36 (09) : 1695 - 1697
  • [29] ASSAY OF ACYL-COA DEHYDROGENASE-ACTIVITY IN FROZEN MUSCLE BIOPSIES - APPLICATION TO MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    VERITY, MA
    TURNBULL, DM
    BIOCHEMICAL MEDICINE AND METABOLIC BIOLOGY, 1993, 49 (03): : 351 - 362
  • [30] IDENTIFICATION OF VERY-LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN 3 PATIENTS PREVIOUSLY DIAGNOSED WITH LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    YAMAGUCHI, S
    INDO, Y
    COATES, PM
    HASHIMOTO, T
    TANAKA, K
    PEDIATRIC RESEARCH, 1993, 34 (01) : 111 - 113
12345