NIEMANN-PICK DISEASE (VARIATION IN THE SPHINGOMYELINASE DEFICIENT GROUP) - NEUROVISCERAL PHENOTYPE-(A) WITH AN ABNORMALLY PROTRACTED CLINICAL COURSE AND VARIABLE EXPRESSION OF NEUROLOGICAL SYMPTOMATOLOGY IN 3 SIBLINGS

被引:29
作者
ELLEDER, M [1 ]
CIHULA, J [1 ]
机构
[1] CHARLES UNIV, TEACHING HOSP, DEPT PEDIAT, HRADEC KRALOVE, CZECHOSLOVAKIA
关键词
D O I
10.1007/BF00442673
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:323 / 328
页数:6
相关论文
共 26 条
[1]   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
[2]  
BLANKENS.RM, 1973, JAMA-J AM MED ASSOC, V225, P54
[3]  
Brady R.O., 1978, METABOLIC BASIS INHE, P718
[4]   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-+
[5]  
BROWN WJ, 1983, NIEMANN PICK DISEASE, V29
[6]  
CALLAHAN JW, 1975, CURRENT TRENDS SPHIN, P367
[7]   CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE [J].
CROCKER, AC .
JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) :69-+
[8]   NIEMANN-PICK DISEASE - ANALYSIS OF LIVER-TISSUE IN SPHINGOMYELINASE-DEFICIENT PATIENTS [J].
ELLEDER, M ;
SMID, F ;
HARZER, K ;
CIHULA, J .
VIRCHOWS ARCHIV A-PATHOLOGICAL ANATOMY AND HISTOPATHOLOGY, 1980, 385 (02) :215-231
[9]   NIEMANN-PICK DISEASE (CROCKERS TYPE-C) - HISTOCHEMICAL STUDY OF DISTRIBUTION AND OF QUALITATIVE DIFFERENCES OF STORAGE PROCESS [J].
ELLEDER, M ;
JIRASEK, A ;
SMID, F .
ACTA NEUROPATHOLOGICA, 1975, 33 (03) :191-200
[10]  
Elleder M, 1981, Acta Neuropathol Suppl, V7, P201