INHERITED METABOLIC STORAGE DISORDERS

被引:13
作者
BRADY, RO
机构
关键词
D O I
10.1146/annurev.ne.05.030182.000341
中图分类号
Q189 [神经科学];
学科分类号
071006 ;
摘要
引用
收藏
页码:33 / 56
页数:24
相关论文
共 98 条
[1]   LEUKOCYTE PEROXIDASE DEFICIENCY IN A FAMILY WITH A DOMINANT FORM OF KUFS DISEASE [J].
ARMSTRONG, D ;
DIMMITT, S ;
BOEHME, DH ;
LEONBERG, SC ;
VOGEL, W .
SCIENCE, 1974, 186 (4159) :155-156
[2]   STUDIES IN BATTEN DISEASE .1. PEROXIDASE DEFICIENCY IN GRANULOCYTES [J].
ARMSTRONG, D ;
DIMMITT, S ;
VANWORMER, DE .
ARCHIVES OF NEUROLOGY, 1974, 30 (02) :144-152
[3]  
ARMSTRONG D, 1975, ARCH PATHOL, V19, P430
[4]  
AUSTIN JH, 1967, INBORN DISORDERS SPH, P359
[5]   MUCOLIPIDOSIS TYPE-IV - GANGLIOSIDE SIALIDASE DEFICIENCY [J].
BACH, G ;
ZEIGLER, M ;
SCHAAP, T ;
KOHN, G .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1979, 90 (04) :1341-1347
[6]   BIOCHEMICAL INVESTIGATIONS OF CULTURED AMNIOTIC-FLUID CELLS IN MUCOLIPIDOSIS TYPE-IV [J].
BACH, G ;
ZEIGLER, M ;
KOHN, G .
CLINICA CHIMICA ACTA, 1980, 106 (02) :121-128
[7]   MODIFICATION OF THE BLOOD-BRAIN-BARRIER - INCREASED CONCENTRATION AND FATE OF ENZYMES ENTERING THE BRAIN [J].
BARRANGER, JA ;
RAPOPORT, SI ;
FREDERICKS, WR ;
PENTCHEV, PG ;
MACDERMOT, KD ;
STEUSING, JK ;
BRADY, RO .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1979, 76 (01) :481-485
[8]  
BEAUDET AL, 1981, METABOLIC BASIS INHE
[9]  
Besley G T, 1978, J Inherit Metab Dis, V1, P115, DOI 10.1007/BF01805686
[10]   SPECTROPHOTOMETRIC AND FLUORIMETRIC ASSAYS OF GALACTOCEREBROSIDASE ACTIVITY, THEIR USE IN THE DIAGNOSIS OF KRABBES DISEASE [J].
BESLEY, GTN ;
GATT, S .
CLINICA CHIMICA ACTA, 1981, 110 (01) :19-26