DIAGNOSIS OF NIEMANN-PICK DISEASE USING A SIMPLE AND SENSITIVE FLUORIMETRIC ASSAY OF SPHINGOMYELINASE ACTIVITY

被引：21
|
作者：
BESLEY, GTN [1 ]
机构：
[1] UNIV EDINBURGH,EDINBURGH EH9 1LF,SCOTLAND
来源：
CLINICA CHIMICA ACTA | 1978年 / 90卷 / 03期
关键词：
D O I：
10.1016/0009-8981(78)90266-8
中图分类号：
R446 [实验室诊断]; R-33 [实验医学、医学实验];
学科分类号：
1001 ;
摘要：
引用
收藏
页码：269 / 278
页数：10
相关论文
共 50 条
  • [1] A new fluorimetric enzyme assay for the diagnosis of Niemann-Pick A/B, with specificity of natural sphingomyelinase substrate
    van Diggelen, OP
    Voznyi, YV
    Keulemans, JLM
    Schoonderwoerd, K
    Ledvinova, J
    Mengel, E
    Zschiesche, M
    Santer, R
    Harzer, K
    JOURNAL OF INHERITED METABOLIC DISEASE, 2005, 28 (05) : 733 - 741
  • [2] ULTRAMICROCHEMICAL ASSAY FOR SPHINGOMYELINASE - RAPID PRENATAL DIAGNOSIS OF A FETUS AT RISK FOR NIEMANN-PICK DISEASE
    MAZIERE, JC
    MAZIERE, C
    HOSLI, P
    HUMAN HEREDITY, 1977, 27 (03) : 197 - 197
  • [3] MICROMETHOD FOR SPHINGOMYELINASE ASSAY USING A CHROMOGENIC ARTIFICIAL SUBSTRATE - ITS USE IN THE DIAGNOSIS OF NIEMANN-PICK DISEASE
    DENTANDT, WR
    JAEKEN, J
    LEROY, JG
    EGGERMONT, E
    ACTA PAEDIATRICA BELGICA, 1979, 32 (04) : 253 - 258
  • [4] SPHINGOMYELINASE ACTIVITY IN PATIENTS AND CARRIERS OF NIEMANN-PICK DISEASE A AND B
    NAKAMURA, T
    KUDO, T
    ORII, T
    JAPANESE JOURNAL OF HUMAN GENETICS, 1976, 20 (04): : 312 - 312
  • [5] Sphingomyelinase deficiency (Niemann-Pick disease) in a Hereford calf
    Saunders, G. K.
    Wenger, D. A.
    VETERINARY PATHOLOGY, 2008, 45 (02) : 201 - 202
  • [6] Niemann-Pick Disease versus acid sphingomyelinase deficiency
    Lozano, J
    Morales, A
    Cremesti, A
    Fuks, Z
    Tilly, JL
    Schuchman, E
    Gulbins, E
    Kolesnick, R
    CELL DEATH AND DIFFERENTIATION, 2001, 8 (01): : 100 - 102
  • [7] EXPRESSION OF SPHINGOMYELINASE IN NORMAL AND NIEMANN-PICK DISEASE TISSUES
    FREEMAN, SJ
    DAVIDSON, DJ
    SHANKARAN, P
    CALLAHAN, JW
    BIOCHEMICAL SOCIETY TRANSACTIONS, 1984, 12 (06) : 1040 - 1040
  • [8] EARLY DIAGNOSIS IN NIEMANN-PICK DISEASE
    TOUSSI, T
    DELVIN, EE
    GLORIEUX, FH
    GOLDMAN, H
    CANADIAN MEDICAL ASSOCIATION JOURNAL, 1974, 111 (06) : 556 - &
  • [9] The impact of biomarkers analysis in the diagnosis of Niemann-Pick C disease and acid sphingomyelinase deficiency
    Deodato, Federica
    Boenzi, Sara
    Taurisano, Roberta
    Semeraro, Michela
    Sacchetti, Elisa
    Carrozzo, Rosalba
    Dionisi-Vici, Carlo
    CLINICA CHIMICA ACTA, 2018, 486 : 387 - 394
  • [10] NIEMANN-PICK DISEASE - PRENATAL DIAGNOSES AND STUDIES OF SPHINGOMYELINASE ACTIVITIES
    WENGER, DA
    WHARTON, C
    SATTLER, M
    CLARK, C
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1978, 2 (04): : 345 - 356
12345