INHERITANCE OF ENZYME DEFECT IN A NEW HEXOSAMINIDASE DEFICIENCY DISEASE

被引:14
作者
JOHNSON, WG
CHUTORIAN, AM
机构
[1] COLUMBIA UNIV, COLL PHYS & SURG, DEPT NEUROL, NEW YORK, NY 10032 USA
[2] COLUMBIA UNIV, COLL PHYS & SURG, DEPT PEDIAT, NEW YORK, NY 10032 USA
关键词
D O I
10.1002/ana.410040503
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:399 / 403
页数:5
相关论文
共 29 条
[1]  
BACH G, 1975, J BIOL CHEM, V250, P1328
[2]  
BAIN AD, 1972, J MENT DEFIC RES, V16, P119
[3]   SUBUNIT STRUCTURE OF HUMAN HEXOSAMINIDASE VERIFIED - INTERCONVERTIBILITY OF HEXOSAMINIDASE ISOENZYMES [J].
BEUTLER, E ;
KUHL, W .
NATURE, 1975, 258 (5532) :262-264
[4]  
BEUTLER E, 1975, AM J HUM GENET, V27, P628
[5]  
BLIEDEN LC, 1974, AM J CARDIOL, V34, P83, DOI 10.1016/0002-9149(74)90097-6
[6]   IDENTIFICATION OF HETEROZYGOUS CARRIERS OF LIPID STORAGE DISEASES - CURRENT STATUS AND CLINICAL APPLICATIONS [J].
BRADY, RO ;
JOHNSON, WG ;
UHLENDORF, BW .
AMERICAN JOURNAL OF MEDICINE, 1971, 51 (04) :423-+
[7]  
DESNICK RJ, 1972, SPHINGOLIPIDS SPHING, P351
[8]   ABSENCE OF HEXOSAMINIDASE-A AND HEXOSAMINIDASE-B IN A NORMAL ADULT [J].
DREYFUS, JC ;
POENARU, L ;
SVENNERHOLM, L .
NEW ENGLAND JOURNAL OF MEDICINE, 1975, 292 (02) :61-63
[9]   CHRONIC HEXOSAMINIDASE A AND B DEFICIENCY [J].
GOLDIE, WD ;
HOLTZMAN, D ;
SUZUKI, K .
ANNALS OF NEUROLOGY, 1977, 2 (02) :156-158
[10]   ENZYMATIC STUDIES ON BLOOD OF CARRIERS OF A TAY-SACHS DISEASE VARIANT (VARIANT-O) [J].
HARZER, K ;
SANDHOFF, K ;
SCHALL, H ;
KOLLMANN, F .
KLINISCHE WOCHENSCHRIFT, 1971, 49 (21) :1189-&