INBORN ERRORS OF LIPID-METABOLISM

被引:0
作者
BRADY, RO [1 ]
机构
[1] NINDS,DEV & METAB NEUROL BRANCH,BETHESDA,MD 20014
关键词
D O I
暂无
中图分类号
Q5 [生物化学]; Q7 [分子生物学];
学科分类号
071010 ; 081704 ;
摘要
引用
收藏
页码:293 / 315
页数:23
相关论文
共 89 条
[71]  
SACHS B, 1877, J NERV MENT DIS, V14, P541
[72]   ENZYME ALTERATIONS AND LIPID STORAGE IN 3 VARIANTS OF TAY-SACHS DISEEASE [J].
SANDHOFF, K ;
HARZER, K ;
WASSLE, W ;
JATZKEWITZ, H .
JOURNAL OF NEUROCHEMISTRY, 1971, 18 (12) :2469-+
[73]   PURIFICATION AND CHARACTERISATION OF 2 FORMS OF HUMAN N-ACETYL-BETA-D-HEXOSAMINIDASE [J].
SANDHOFF, K ;
WASSLE, W .
HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1971, 352 (08) :1119-&
[74]  
SANDHOFF K, 1968, Pathologia Europaea, V3, P278
[75]   DEFICIENT HEXOSAMINIDASE ACTIVITY IN AN EXCEPTIONAL CASE OF TAY-SACHS DISEASE WITH ADDITIONAL STORAGE OF KIDNEY GLOBOSIDE IN VISCERAL ORGANS [J].
SANDHOFF, K ;
ANDREAE, U ;
JATZKEWITZ, H .
LIFE SCIENCES PART 1 PHYSIOLOGY AND PHARMACOLOGY AND PART 2 BIOCHEMISTRY GENERAL AND MOLECULAR BIOLOGY, 1968, 7 (6P2) :283-+
[76]   Clinical, pathological-anatomical and hereditary investigations familial diffuse brain sclerosis in childhood (Article on the teaching of heredodegeneration) [J].
Scholz, W .
ZEITSCHRIFT FUR DIE GESAMTE NEUROLOGIE UND PSYCHIATRIE, 1925, 99 :651-717
[77]   METACHROMATIC LEUKODYSTROPHY (MLD) .10. IMMUNOLOGICAL STUDIES OF ABNORMAL SULFATASE A [J].
STUMPF, D ;
NEUWELT, E ;
AUSTIN, J ;
KOHLER, P .
ARCHIVES OF NEUROLOGY, 1971, 25 (05) :427-&
[78]   GLOBOID CELL LEUCODYSTROPHY (KRABBES DISEASE) - DEFICIENCY OF GALACTOCEREBROSIDE BETA-GALACTOSIDASE [J].
SUZUKI, K ;
SUZUKI, Y .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1970, 66 (02) :302-&
[79]   GM2-GANGLIOSIDOSIS WITH TOTAL HEXOSAMINIDASE DEFICIENCY [J].
SUZUKI, Y ;
JACOB, JC ;
SUZUKI, K ;
KUTTY, KM ;
SUZUKI, K .
NEUROLOGY, 1971, 21 (04) :313-&