MOLECULAR ASPECTS OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY

被引：0
|
作者：
MATSUBARA, Y [1 ]
机构：
[1] TOHOKU UNIV,SCH MED,SENDAI,MIYAGI 980,JAPAN
来源：
AMERICAN JOURNAL OF HUMAN GENETICS | 1991年 / 49卷 / 04期
关键词：
D O I：
暂无
中图分类号：
Q3 [遗传学];
学科分类号：
071007 ; 090102 ;
摘要：
引用
收藏
页码：53 / 53
页数：1
相关论文
共 50 条
  • [21] MUTATIONS IN MEDIUM CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    DING, JH
    ROE, CR
    CHEN, YT
    MATSUBARA, Y
    NARISAWA, K
    LANCET, 1990, 336 (8717): : 748 - 749
  • [22] RETT-SYNDROME IN A PATIENT WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    BEEKMAN, RP
    HOFSTEE, N
    SMEITINK, JAM
    POLLTHE, BT
    DURAN, M
    EUROPEAN JOURNAL OF PEDIATRICS, 1994, 153 (04) : 264 - 266
  • [23] IDENTIFICATION OF A COMMON MUTATION IN PATIENTS WITH MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY
    MATSUBARA, Y
    NARISAWA, K
    MIYABAYASHI, S
    TADA, K
    COATES, PM
    BACHMANN, C
    ELSAS, LJ
    POLLITT, RJ
    RHEAD, WJ
    ROE, CR
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1990, 171 (01) : 498 - 505
  • [24] NEONATAL ONSET OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN 2 SIBLINGS
    NOBUKUNI, Y
    YOKOO, T
    OHTANI, Y
    ENDO, F
    AOKI, S
    YOSHINAGA, M
    MATSUMOTO, T
    YOSHIMOTO, M
    TSUJI, Y
    MATSUDA, I
    BRAIN & DEVELOPMENT, 1988, 10 (02): : 129 - 134
  • [25] MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - AUTOPSY FINDINGS IN 26 CHILDREN
    IAFOLLA, AK
    BUTTS, J
    ROE, CR
    AMERICAN JOURNAL OF HUMAN GENETICS, 1995, 57 (04) : 1864 - 1864
  • [26] IS GENOTYPING USEFUL FOR THE SCREENING OF MEDIUM-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY IN FRANCE
    GED, C
    ELSEBAI, H
    DEVERNEUIL, H
    PARROTROULEAU, F
    JOURNAL OF INHERITED METABOLIC DISEASE, 1995, 18 (02) : 253 - 256
  • [27] 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
  • [28] Medium-chain acyl-CoA dehydrogenase deficiency in Spain
    Martinez, G
    Ribes, A
    Briones, P
    Rodés, M
    Baldellou, A
    Pineda, M
    Rodrigo, C
    Lorente, I
    García-Silva, MT
    Riudor, E
    Jaraba, P
    Lopez-Casas, J
    Nuñez-Roldan, A
    JOURNAL OF INHERITED METABOLIC DISEASE, 1998, 21 (06) : 693 - 694
  • [29] Hyperuricaemia and medium-chain acyl-CoA dehydrogenase deficiency
    Mayatepek, E
    Koch, HG
    Hoffmann, GF
    JOURNAL OF INHERITED METABOLIC DISEASE, 1997, 20 (06) : 842 - 843
  • [30] Molecular analysis of medium-chain acyl-CoA dehydrogenase deficiency in Portugal
    Luz, A.
    Violante, S.
    Gaspar, A.
    Lobo, Antunes M.
    Rivera, I. A.
    Silva, M. F. B.
    Ramos, A.
    Rocha, H.
    Sousa, C.
    Marcao, A.
    Fonseca, H.
    Ventura, F. V.
    Leandro, P.
    Vilarinho, L.
    Tavares, de Almeida, I
    JOURNAL OF INHERITED METABOLIC DISEASE, 2008, 31 : 34 - 34
12345