PRENATAL DIAGNOSIS OF GLOBOID-CELL LEUKODYSTROPHY (KRABBES DISEASE) - 3RD DOCUMENTED CASE

被引:14
|
作者
HARZER, K [1 ]
机构
[1] UNIV TUBINGEN,INST HIRN FORSCH,D-7400 TUBINGEN 1,FED REP GER
关键词
D O I
10.1007/BF00393969
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:193 / 196
页数:4
相关论文
共 50 条
  • [41] GLOBOID-CELL LEUKODYSTROPHY IS A GENERALIZED GALACTOSYL-SPHINGOSINE (PSYCHOSINE) STORAGE DISEASE
    KOBAYASHI, T
    SHINODA, H
    GOTO, I
    YAMANAKA, T
    SUZUKI, Y
    BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1987, 144 (01) : 41 - 46
  • [42] A Boy with Developmental Delay and Irritability Infantile Krabbe disease (globoid-cell leukodystrophy)
    Krishnamoorthy, Kalpathy S.
    Eichler, Florian S.
    Goyal, Namita A.
    Small, Juan E.
    Snuderl, Matija
    NEW ENGLAND JOURNAL OF MEDICINE, 2010, 362 (04): : 346 - 356
  • [43] BIOCHEMICAL, GENETIC, PSYCHOMETRIC, AND NEUROPSYCHOLOGICAL STUDIES IN HETEROZYGOTES OF A FAMILY WITH GLOBOID-CELL LEUCODYSTROPHY (KRABBES DISEASE)
    CHRISTOMANOU, H
    JAFFE, S
    MARTINIUS, J
    CAP, C
    BETKE, K
    HUMAN GENETICS, 1981, 58 (02) : 179 - 183
  • [44] THE TWITCHER MOUSE - AN ENZYMATICALLY AUTHENTIC MODEL OF HUMAN GLOBOID-CELL LEUKODYSTROPHY (KRABBE DISEASE)
    KOBAYASHI, T
    YAMANAKA, T
    JACOBS, JM
    TEIXEIRA, F
    SUZUKI, K
    BRAIN RESEARCH, 1980, 202 (02) : 479 - 483
  • [45] Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease)
    Caniglia, M
    Rana, I
    Pinto, RM
    Fariello, G
    Caruso, R
    Angioni, A
    Vici, CD
    Sabetta, G
    De Rossi, G
    PEDIATRIC TRANSPLANTATION, 2002, 6 (05) : 427 - 431
  • [46] Psychosine-reducing molecules as potential therapies for globoid-cell leukodystrophy or Krabbe disease
    Katabuchi, Asaka
    Jang, Dae Song
    Hernandez, Jairo
    Mirabel, Rosa
    Fabian, Isabella
    Moser, Ann
    Maegawa, Gustavo
    MOLECULAR GENETICS AND METABOLISM, 2020, 129 (02) : S86 - S86
  • [47] GLYCOSPHINGOLIPID BETA-GALACTOSIDASES .3. CANINE FORM OF GLOBOID-CELL LEUKODYSTROPHY - COMPARISON WITH HUMAN DISEASE
    SUZUKI, Y
    MIYATAKE, T
    FLETCHER, TF
    SUZUKI, K
    JOURNAL OF BIOLOGICAL CHEMISTRY, 1974, 249 (07) : 2109 - 2112
  • [48] SERIAL MAGNETIC-RESONANCE-IMAGING STUDIES IN A CASE OF LATE ONSET GLOBOID-CELL LEUKODYSTROPHY
    TADA, K
    TANIIKE, M
    ONO, J
    TSUKAMOTO, H
    INUI, K
    OKADA, S
    NEUROPEDIATRICS, 1992, 23 (06) : 306 - 309
  • [49] GENETIC GALACTOSYLCERAMIDASE DEFICIENCY (GLOBOID-CELL LEUKODYSTROPHY, KRABBE DISEASE) IN DIFFERENT MAMMALIAN-SPECIES
    SUZUKI, K
    SUZUKI, K
    NEUROCHEMICAL PATHOLOGY, 1985, 3 (01): : 53 - 68
  • [50] INFANTILE GLOBOID-CELL LEUCODYSTROPHY (KRABBES DISEASE) - SOME REMARKS ON CLINICAL, BIOCHEMICAL AND SURAL NERVE BIOPSY FINDINGS
    JOOSTEN, EMG
    KRIJGSMAN, JB
    GABREELS.AA
    GABREELS, FJ
    BAARS, PEC
    NEUROPADIATRIE, 1974, 5 (02): : 191 - 209