CLINICAL HETEROGENEITY IN A SIBSHIP WITH NIEMANN-PICK DISEASE TYPE-C

被引:0
作者
YATZIV, S
LEIBOVITZBENGERSHON, Z
ORNOY, A
BACH, G
机构
[1] HADASSAH UNIV HOSP, DEPT HUMAN GENET, IL-91120 JERUSALEM, ISRAEL
[2] HADASSAH UNIV HOSP, PEDIAT RES UNIT, IL-91120 JERUSALEM, ISRAEL
[3] HEBREW UNIV JERUSALEM, HADASSAH HOSP & MED SCH, DEPT ANAT & EMBRYOL, JERUSALEM, ISRAEL
关键词
D O I
暂无
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
引用
收藏
页码:125 / 131
页数:7
相关论文
共 28 条
[1]   NIEMANN-PICK DISEASE AND GIANT CELL TRANSFORMATION OF LIVER [J].
ASHKENAZ.A ;
YAROM, R ;
GUTMAN, A ;
ABRAHAMO.A ;
RUSSELL, A .
ACTA PAEDIATRICA SCANDINAVICA, 1971, 60 (03) :285-+
[2]  
BARTLETT GR, 1959, J BIOL CHEM, V234, P466
[3]  
CALLAHAN JW, 1975, PEDIATR RES, V9, P914
[4]   NIEMANN-PICK DISEASE, TYPE-C - EVIDENCE FOR THE DEFICIENCY OF AN ACTIVATING FACTOR STIMULATING SPHINGOMYELIN AND GLUCOCEREBROSIDE DEGRADATION [J].
CHRISTOMANOU, H .
HOPPE-SEYLERS ZEITSCHRIFT FUR PHYSIOLOGISCHE CHEMIE, 1980, 361 (10) :1489-1502
[5]   NIEMANN-PICK DISEASE - A REVIEW OF 18 PATIENTS [J].
CROCKER, AC ;
FARBER, S .
MEDICINE, 1958, 37 (01) :1-95
[6]   CEREBRAL DEFECT IN TAY-SACHS DISEASE AND NIEMANN-PICK DISEASE [J].
CROCKER, AC .
JOURNAL OF NEUROCHEMISTRY, 1961, 7 (01) :69-+
[7]   GLUCOSYLCERAMIDE IN PLASMA OF PATIENTS WITH NIEMANN-PICK DISEASE [J].
DACREMONT, G ;
KINT, JA ;
CARTON, D ;
COCQUYT, G .
CLINICA CHIMICA ACTA, 1974, 52 (03) :365-367
[8]  
FOLCH J, 1957, J BIOL CHEM, V226, P497
[9]  
GATT S, 1978, ENZYMES LIPID METABO, P487
[10]   NIEMANN-PICK DISEASE IN INFANCY - REPORT OF 2 SIBLINGS WITH CLINICAL, HISTOLOGIC AND CHEMICAL STUDIES [J].
IVEMARK, BI ;
TUNELL, R ;
SVENNERHOLM, L ;
THOREN, C .
ACTA PAEDIATRICA, 1963, 52 (04) :391-+