ENZYMATIC STUDIES ON BLOOD OF CARRIERS OF A TAY-SACHS DISEASE VARIANT (VARIANT-O)

被引:18
作者
HARZER, K
SANDHOFF, K
SCHALL, H
KOLLMANN, F
机构
来源
KLINISCHE WOCHENSCHRIFT | 1971年 / 49卷 / 21期
关键词
D O I
10.1007/BF01732464
中图分类号
R5 [内科学];
学科分类号
1002 ; 100201 ;
摘要
引用
收藏
页码:1189 / &
相关论文
共 13 条
[1]   IDENTIFICATION OF TAY-SACHS DISEASE CARRIERS BY ACRYLAMIDE GEL ELECTROPHORESIS [J].
FRIEDLAN.J ;
SCHNECK, L ;
SAIFER, A ;
POURFAR, M ;
VOLK, BW .
CLINICA CHIMICA ACTA, 1970, 28 (03) :397-&
[2]  
HARZER K, 1970, Z ANAL CHEM FRESENIU, V252, P170
[3]  
HARZER K, 1969, LANCET, V2, P1195
[4]   DIAGNOSIS OF GAUCHERS DISEASE AND NIEMANN-PICK DISEASE WITH SMALL SAMPLES OF VENOUS BLOOD [J].
KAMPINE, JP ;
BRADY, RO ;
KANFER, JN ;
FELD, M ;
SHAPIRO, D .
SCIENCE, 1967, 155 (3758) :86-&
[5]   TAY-SACHS DISEASE - DETECTION OF HETEROZYGOTES AND HOMOZYGOTES BY SERUM HEXOSAMINIDASE ASSAY [J].
OBRIEN, JS ;
OKADA, S ;
CHEN, A ;
FILLERUP, DL .
NEW ENGLAND JOURNAL OF MEDICINE, 1970, 283 (01) :15-&
[6]   TAY-SACHS DISEASE - GENERALIZED ABSENCE OF A BETA-D-N-ACEYLHEXOSAMINIDASE COMPONENT [J].
OKADA, S ;
OBRIEN, JS .
SCIENCE, 1969, 165 (3894) :698-&
[7]   TAY-SACHS DISEASE WITH A HEXOSAMINIDASE DEFECT [J].
PILZ, H ;
MULLER, D ;
SANDHOFF, K ;
TERMEULE.V .
DEUTSCHE MEDIZINISCHE WOCHENSCHRIFT, 1968, 93 (39) :1833-&
[8]  
Sandhoff K, 1970, FEBS Lett, V11, P342, DOI 10.1016/0014-5793(70)80564-6
[9]  
SANDHOFF K, 1968, Pathologia Europaea, V3, P278
[10]   VARIATION OF BETA-N-ACETYLHEXOSAMINIDASE-PATTERN IN TAY-SACHS DISEASE [J].
SANDHOFF, K .
FEBS LETTERS, 1969, 4 (04) :351-&