NIEMANN-PICK DISEASE TYPE-C - PATHOLOGICAL, HISTOCHEMICAL, ULTRASTRUCTURAL AND BIOCHEMICAL-STUDIES

被引:36
作者
GILBERT, EF
CALLAHAN, J
VISESKUL, C
OPITZ, JM
机构
[1] UNIV WISCONSIN, SCH MED, DEPT PEDIAT, MADISON, WI 53792 USA
[2] UNIV WISCONSIN, CTR HLTH SCI, DEPT PATHOL, MADISON, WI 53792 USA
[3] UNIV WISCONSIN, CTR HLTH SCI, DEPT PEDIAT, MADISON, WI 53792 USA
[4] UNIV WISCONSIN, DEPT PEDIAT, MADISON, WI 53792 USA
[5] UNIV WISCONSIN, DEPT MED GENET, MADISON, WI 53792 USA
[6] UNIV WASHINGTON, DEPT PEDIAT, SEATTLE, WA 98195 USA
[7] UNIV WASHINGTON, DEPT MED GENET, SEATTLE, WA 98195 USA
[8] HOSP SICK CHILDREN, TORONTO M5G 1X8, ONTARIO, CANADA
[9] SHODAIR CHILDRENS HOSP, SHODAIR MONTANA REG GENET PROGRAM, HELENA, MT USA
[10] MONTANA STATE UNIV, DEPT ZOOL, BOZEMAN, MT 59715 USA
[11] MONTANA STATE UNIV, DEPT HIST PHILOSOPHY, BOZEMAN, MT 59715 USA
关键词
D O I
10.1007/BF00442993
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:263 / 274
页数:12
相关论文
共 40 条
[1]  
Attal H C, 1977, J Assoc Physicians India, V25, P829
[2]  
BARTLETT GR, 1959, J BIOL CHEM, V234, P466
[3]   SPHINGOMYELINASE DEFECT IN NIEMANN-PICK DISEASE, TYPE-C, FIBROBLASTS [J].
BESLEY, GTN .
FEBS LETTERS, 1977, 80 (01) :71-74
[4]  
Brady R.O., 1978, METABOLIC BASIS INHE, P718
[5]   METABOLISM OF SPHINGOMYELIN .2. EVIDENCE OF AN ENZYMATIC DEFICIENCY IN NIEMANN-PICK DISEASE [J].
BRADY, RO ;
KANFER, JN ;
MOCK, MB ;
FREDRICKSON, DS .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1966, 55 (02) :366-+
[6]  
Callahan J W, 1976, Adv Exp Med Biol, V68, P367
[7]   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
[8]   ISOENZYMES OF SPHINGOMYELINASE AND GENETIC DEFECT IN NIEMANN-PICK DISEASE, TYPE-C [J].
CALLAHAN, JW ;
KHALIL, M ;
GERRIE, J .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1974, 58 (02) :384-390
[9]   NIEMANN-PICK DISEASE - A REVIEW OF 18 PATIENTS [J].
CROCKER, AC ;
FARBER, S .
MEDICINE, 1958, 37 (01) :1-95
[10]   CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE [J].
CROCKER, AC .
JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) :69-+