Short-chain acyl-CoA dehydrogenase deficiency in a 16-year-old girl with severe muscle wasting and scoliosis

被引:26
作者
Baerlocher, KE
Steinmann, B
Aguzzi, A
Krahenbuhl, S
Roe, CR
VianeySaban, C
机构
[1] UNIV ZURICH,CHILDRENS HOSP,DIV METAB & MOL DIS,CH-8006 ZURICH,SWITZERLAND
[2] UNIV ZURICH,CLIN INTERNAL MED,DEPT CLIN PHARMACOL & TOXICOL,CH-8006 ZURICH,SWITZERLAND
[3] UNIV ZURICH,INST NEUROPATHOL,CH-8006 ZURICH,SWITZERLAND
[4] BAYLOR UNIV,MED CTR,INST METAB DIS,DALLAS,TX
[5] HOP DEBROUSSE,SERV BIOCHIM PEDIAT,LYON,FRANCE
关键词
D O I
10.1023/A:1005319120751
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:427 / 431
页数:5
相关论文
共 13 条
  • [1] SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY - CLINICAL AND BIOCHEMICAL-STUDIES IN 2 PATIENTS
    AMENDT, BA
    GREENE, C
    SWEETMAN, L
    CLOHERTY, J
    SHIH, V
    MOON, A
    TEEL, L
    RHEAD, WJ
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1987, 79 (05) : 1303 - 1309
  • [2] VERY LONG-CHAIN ACYL-COA DEHYDROGENASE-DEFICIENCY - IDENTIFICATION OF A NEW INBORN ERROR OF MITOCHONDRIAL FATTY-ACID OXIDATION IN FIBROBLASTS
    BERTRAND, C
    LARGILLIERE, C
    ZABOT, MT
    MATHIEU, M
    VIANEYSABAN, C
    [J]. BIOCHIMICA ET BIOPHYSICA ACTA, 1993, 1180 (03) : 327 - 329
  • [3] CLINICAL AND BIOCHEMICAL-CHARACTERIZATION OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE-DEFICIENCY
    BHALA, A
    WILLI, SM
    RINALDO, P
    BENNETT, MJ
    SCHMIDTSOMMERFELD, E
    HALE, DE
    [J]. JOURNAL OF PEDIATRICS, 1995, 126 (06) : 910 - 915
  • [4] GENETIC DEFICIENCY OF SHORT-CHAIN ACYL-COENZYME-A DEHYDROGENASE IN CULTURED FIBROBLASTS FROM A PATIENT WITH MUSCLE CARNITINE DEFICIENCY AND SEVERE SKELETAL-MUSCLE WEAKNESS
    COATES, PM
    HALE, DE
    FINOCCHIARO, G
    TANAKA, K
    WINTER, SC
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1988, 81 (01) : 171 - 175
  • [5] Ethylmalonic aciduria is associated with an amino acid variant of short chain acyl-coenzyme A dehydrogenase
    Corydon, MJ
    Gregersen, N
    Lehnert, W
    Ribes, A
    Rinaldo, P
    Kmoch, S
    Christensen, E
    Kristensen, TJ
    Andresen, BS
    Bross, P
    Winter, V
    Martinez, G
    Neve, S
    Jensen, TG
    Bolund, L
    Kolvraa, S
    [J]. PEDIATRIC RESEARCH, 1996, 39 (06) : 1059 - 1066
  • [6] Corydon Morten Juhl, 1996, Journal of Inherited Metabolic Disease, V19, P57
  • [7] Gregersen N., 1996, Journal of Inherited Metabolic Disease, V19, P58
  • [8] EVIDENCE FOR INTERMEDIATE CHANNELING IN MITOCHONDRIAL BETA-OXIDATION
    NADA, MA
    RHEAD, WJ
    SPRECHER, H
    SCHULZ, H
    ROE, CR
    [J]. JOURNAL OF BIOLOGICAL CHEMISTRY, 1995, 270 (02) : 530 - 535
  • [9] IDENTIFICATION OF 2 VARIANT SHORT CHAIN ACYL COENZYME-A DEHYDROGENASE ALLELES, EACH CONTAINING A DIFFERENT POINT MUTATION IN A PATIENT WITH SHORT CHAIN ACYL COENZYME-A DEHYDROGENASE-DEFICIENCY
    NAITO, E
    INDO, Y
    TANAKA, K
    [J]. JOURNAL OF CLINICAL INVESTIGATION, 1990, 85 (05) : 1575 - 1582
  • [10] Roe C. R., 1995, METABOLIC MOL BASES, P1501