DIAGNOSIS OF CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME BY MATRIX-ASSISTED LASER-DESORPTION TIME-OF-FLIGHT MASS-SPECTROMETRY

被引:47
作者
WADA, Y
GU, JG
OKAMOTO, N
INUI, K
机构
[1] RES INST MATERNAL & CHILD HLTH,IZUMI,OSAKA 59002,JAPAN
[2] OSAKA UNIV,SCH MED,DEPT PAEDIAT,SUITA,OSAKA 565,JAPAN
关键词
D O I
10.1002/bms.1200230211
中图分类号
Q6 [生物物理学];
学科分类号
071011 ;
摘要
Serum transferrin from patients with carbohydrate-deficient glycoprotein syndrome was analysed by matrix-assisted laser desorption time-of-flight mass spectrometry (MALDI-TOF mass spectrometry). Abnormal molecular species with a defect of one or two oligosaccharide chains of 2200 Da were clearly identified. MALDI-TOF mass spectrometry will serve to diagnose this aetiologically unknown, metabolic disease.
引用
收藏
页码:108 / 109
页数:2
相关论文
共 11 条
  • [1] CHANGES IN CARBOHYDRATE-DEFICIENT TRANSFERRIN LEVELS AFTER ALCOHOL WITHDRAWAL
    BEHRENS, UJ
    WORNER, TM
    LIEBER, CS
    [J]. ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH, 1988, 12 (04) : 539 - 544
  • [2] MICROHETEROGENEITY OF HUMAN-SERUM TRANSFERRIN - A BIOLOGICAL PHENOMENON STUDIED BY ISOELECTRIC-FOCUSING IN IMMOBILIZED PH GRADIENTS
    DEJONG, G
    VANEIJK, HG
    [J]. ELECTROPHORESIS, 1988, 9 (09) : 589 - 598
  • [3] HARRISON HH, 1992, CLIN CHEM, V38, P1390
  • [4] SIALIC ACID-DEFICIENT SERUM AND CEREBROSPINAL-FLUID TRANSFERRIN IN A NEWLY RECOGNIZED GENETIC SYNDROME
    JAEKEN, J
    VANEIJK, HG
    VANDERHEUL, C
    CORBEEL, L
    EECKELS, R
    EGGERMONT, E
    [J]. CLINICA CHIMICA ACTA, 1984, 144 (2-3) : 245 - 247
  • [5] Jaeken J, 1991, ACTA PAEDIATR SC S, V375, P6
  • [6] DISIALOTRANSFERRIN DEVELOPMENTAL DEFICIENCY SYNDROME
    KRISTIANSSON, B
    ANDERSSON, M
    TONNBY, B
    HAGBERG, B
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1989, 64 (01) : 71 - 76
  • [7] TRANSFERRIN PHENOTYPE AND LEVEL OF CARBOHYDRATE-DEFICIENT TRANSFERRIN IN HEALTHY-INDIVIDUALS
    STIBLER, H
    BORG, S
    BECKMAN, G
    [J]. ALCOHOLISM-CLINICAL AND EXPERIMENTAL RESEARCH, 1988, 12 (03) : 450 - 453
  • [8] CARBOHYDRATE-DEFICIENT SERUM TRANSFERRIN IN A NEW SYSTEMIC HEREDITARY SYNDROME
    STIBLER, H
    JAEKEN, J
    [J]. ARCHIVES OF DISEASE IN CHILDHOOD, 1990, 65 (01) : 107 - 111
  • [9] STIBLER H, 1991, ACTA PAEDIATR SC S, V375, P21
  • [10] STRUCTURE OF SERUM TRANSFERRIN IN CARBOHYDRATE-DEFICIENT GLYCOPROTEIN SYNDROME
    WADA, Y
    NISHIKAWA, A
    OKAMOTO, N
    INUI, K
    TSUKAMOTO, H
    OKADA, S
    TANIGUCHI, N
    [J]. BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1992, 189 (02) : 832 - 836