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
  • [31] ANTENATAL DIAGNOSIS OF NIEMANN-PICK DISEASE IN A TWIN PREGNANCY
    DONNAI, P
    DONNAI, D
    HARRIS, R
    STEPHENS, R
    YOUNG, E
    CAMPBELL, S
    JOURNAL OF MEDICAL GENETICS, 1981, 18 (05) : 359 - 361
  • [32] SPHINGOMYELINASE IN NORMAL HUMAN SPLEENS AND IN SPLEENS FROM SUBJECTS WITH NIEMANN-PICK DISEASE
    SCHNEIDER, PB
    KENNEDY, EP
    JOURNAL OF LIPID RESEARCH, 1967, 8 (03) : 202 - +
  • [33] Acid sphingomyelinase deficiency: Prevalence and characterization of an intermediate phenotype of NIEMANN-PICK disease
    Wasserstein, Melissa P.
    Aron, Alan
    Brodie, Scott E.
    Simonaro, Calogera
    Desnick, Robert J.
    McGovern, Margaret M.
    JOURNAL OF PEDIATRICS, 2006, 149 (04): : 554 - 559
  • [34] PRENATAL DIAGNOSIS AND FETAL PATHOLOGY OF NIEMANN-PICK DISEASE
    HIGAMI, S
    OMURA, K
    NISHIZAWA, K
    YAMASHITA, T
    TADA, K
    TOHOKU JOURNAL OF EXPERIMENTAL MEDICINE, 1978, 125 (01): : 11 - 17
  • [35] CLINICAL-DIAGNOSIS OF THE NIEMANN-PICK DISEASE IN ADULT
    KANSHINA, NF
    CHEMYAKIN, AI
    OZHIGANOVA, IN
    ARKHIV PATOLOGII, 1986, 48 (07) : 78 - 80
  • [36] Altered surfactant in the acid sphingomyelinase deficient mouse model of Niemann-Pick disease
    Ikegami, M
    Dhami, R
    Schuchman, E
    PEDIATRIC RESEARCH, 2002, 51 (04) : 345A - 345A
  • [37] SPHINGOMYELINASE ACTIVITIES IN CULTURED SKIN FIBROBLASTS FROM PATIENTS WITH NIEMANN-PICK DISEASE
    MINAMI, R
    MATSUURA, Y
    NAKAMURA, F
    KUDOH, T
    SOGAWA, H
    OYANAGI, K
    SUKEGAWA, K
    ORII, T
    MARUYAMA, K
    NAKAO, T
    HUMAN GENETICS, 1979, 47 (02) : 159 - 167
  • [38] Niemann-Pick Type A Disease: Behavior of Neutral Sphingomyelinase and Vitamin D Receptor
    Conte, Carmela
    Arcuri, Cataldo
    Cataldi, Samuela
    Mecca, Carmen
    Codini, Michela
    Ceccarini, Maria Rachele
    Patria, Federica Filomena
    Beccari, Tommaso
    Albi, Elisabetta
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2019, 20 (09)
  • [39] DIAGNOSIS OF NIEMANN-PICK DISEASE TYPE-C
    PATTERSON, MC
    PENTCHEV, PG
    JOURNAL OF PEDIATRICS, 1994, 124 (04): : 655 - 656
  • [40] SPHINGOMYELINASES AND NIEMANN-PICK DISEASE
    LEVADE, T
    SALVAYRE, R
    DOUSTEBLAZY, L
    JOURNAL OF CLINICAL CHEMISTRY AND CLINICAL BIOCHEMISTRY, 1986, 24 (04): : 205 - 220
12345