ENZYME-ACTIVITIES AND PHOSPHOLIPID STORAGE PATTERNS IN BRAIN AND SPLEEN SAMPLES FROM NIEMANN-PICK DISEASE VARIANTS - A COMPARISON OF NEUROPATHIC AND NONNEUROPATHIC FORMS

被引：20

作者：

BESLEY, GTN

ELLEDER, M

机构：

[1] UNIV EDINBURGH, EDINBURGH EH8 9YL, MIDLOTHIAN, SCOTLAND

[2] FAC MED PRAGUE, DEPT PATHOL 2, PRAGUE 2, CZECHOSLOVAKIA

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1986年 / 9卷 / 01期

关键词：

D O I：

10.1007/BF01813904

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：59 / 71

页数：13

共 33 条

[1] STUDIES ON HUMAN N-ACETYL-BETA-D-HEXOSAMINIDASE-C SEPARATED FROM NEONATAL BRAIN [J].

BESLEY, GTN ;

BROADHEAD, DM .

BIOCHEMICAL JOURNAL, 1976, 155 (01) :205-208

[2] SOMATIC-CELL HYBRIDIZATION STUDIES SHOWING DIFFERENT GENE-MUTATIONS IN NIEMANN-PICK VARIANTS [J].

BESLEY, GTN ;

HOOGEBOOM, AJM ;

HOOGEVEEN, A ;

KLEIJER, WJ ;

GALJAARD, H .

HUMAN GENETICS, 1980, 54 (03) :409-412

[3] STUDIES ON SPHINGOMYELINASE AND BETA-GLUCOSIDASE ACTIVITIES IN NIEMANN-PICK DISEASE VARIANTS - PHOSPHODIESTERASE ACTIVITIES MEASURED WITH NATURAL AND ARTIFICIAL SUBSTRATES [J].

BESLEY, GTN ;

MOSS, SE .

BIOCHIMICA ET BIOPHYSICA ACTA, 1983, 752 (01) :54-64

[4] SPHINGOMYELINASE DEFECT IN NIEMANN-PICK DISEASE, TYPE-C, FIBROBLASTS [J].

BESLEY, GTN .

FEBS LETTERS, 1977, 80 (01) :71-74

[5]

Brady R. O., 1983, METABOLIC BASIS INHE, P831

[6] SPHINGOMYELINASES IN HUMAN TISSUES .2. ABSENCE OF A SPECIFIC ENZYME FROM LIVER AND BRAIN OF NIEMANN-PICK DISEASE, TYPE-C [J].

CALLAHAN, JW ;

KHALIL, M ;

PHILIPPART, M .

PEDIATRIC RESEARCH, 1975, 9 (12) :908-913

[7] CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE [J].

CROCKER, AC .

JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) :69-+

[8] BRAIN GLUCOCEREBROSIDASE IN GAUCHERS-DISEASE [J].

DANIELS, LB ;

COYLE, PJ ;

GLEW, RH ;

RADIN, NS ;

LABOW, RS .

ARCHIVES OF NEUROLOGY, 1982, 39 (09) :550-556

[9] NIEMANN-PICK DISEASE TYPE-C - STUDY ON THE NATURE OF THE CEREBRAL STORAGE PROCESS [J].

ELLEDER, M ;

JIRASEK, A ;

SMID, F ;

LEDVINOVA, J ;

BESLEY, GTN .

ACTA NEUROPATHOLOGICA, 1985, 66 (04) :325-336

[10] INTERNATIONAL-SYMPOSIUM ON NIEMANN-PICK DISEASE [J].

ELLEDER, M ;

JIRASEK, A .

EUROPEAN JOURNAL OF PEDIATRICS, 1983, 140 (02) :90-91

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