PRENATAL DIAGNOSIS OF MUCOLIPIDOSIS-IV BY ELECTRON-MICROSCOPY

被引:26
作者
KOHN, G
LIVNI, N
ORNOY, A
SEKELES, E
BEYTH, Y
LEGUM, C
BACH, G
COHEN, MM
机构
[1] HADASSAH UNIV HOSP & MED SCH, DEPT HUMAN GENET, JERUSALEM, ISRAEL
[2] HADASSAH UNIV HOSP & MED SCH, DEPT PATHOL, JERUSALEM, ISRAEL
[3] HADASSAH UNIV HOSP & MED SCH, DEPT ANAT & EMBRYOL, JERUSALEM, ISRAEL
[4] HADASSAH UNIV HOSP & MED SCH, DEPT OBSTET & GYNECOL, JERUSALEM, ISRAEL
[5] HEBREW UNIV JERUSALEM, HADASSAH MED SCH, JERUSALEM 91000, ISRAEL
[6] TEL AVIV UNIV, ROKACH HOSP, MED CTR, DEPT GENET, RAMAT AVIV, ISRAEL
关键词
D O I
10.1016/S0022-3476(77)80765-8
中图分类号
R72 [儿科学];
学科分类号
100202 ;
摘要
引用
收藏
页码:62 / 66
页数:5
相关论文
共 12 条
[1]   ABNORMAL GANGLIOSIDE ACCUMULATION IN CULTURED FIBROBLASTS FROM PATIENTS WITH MUCOLIPIDOSIS-IV [J].
BACH, G ;
COHEN, MM ;
KOHN, G .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1975, 66 (04) :1483-1490
[2]  
BACH G, UNPUBLISHED DATA
[3]   CONGENITAL CORNEAL CLOUDING WITH ABNORMAL SYSTEMIC STORAGE BODIES - NEW VARIANT OF MUCOLIPIDOSIS [J].
BERMAN, ER ;
LIVNI, N ;
SHAPIRA, E ;
MERIN, S ;
LEVIJ, IS .
JOURNAL OF PEDIATRICS, 1974, 84 (04) :519-526
[4]   ENZYME THERAPY AND PRENATAL DIAGNOSIS IN GLYCOGENOSIS TYPE-II [J].
HUG, G .
AMERICAN JOURNAL OF DISEASES OF CHILDREN, 1974, 128 (05) :607-609
[5]  
KOHN G, UNPUBLISHED DATA
[6]   I-CELL DISEASE - CLINICAL PICTURE [J].
LEROY, JG ;
SPRANGER, JW ;
FEINGOLD, M ;
OPITZ, JM ;
CROCKER, AC .
JOURNAL OF PEDIATRICS, 1971, 79 (03) :360-+
[7]   STRUCTURE AND FUNCTION OF LYSOSOMES OF HUMAN FIBROBLASTS IN CULTURE - DEPENDENCE ON MEDIUM PH [J].
LIE, SO ;
SCHOFIELD, BH ;
TAYLOR, HA ;
DOTY, SB .
PEDIATRIC RESEARCH, 1973, 7 (01) :13-19
[8]   ELECTRON-MICROSCOPY OF HUMAN SKIN FIBROBLASTS INSITU DURING GROWTH IN CULTURE [J].
LUCKY, AW ;
MAHONEY, MJ ;
BARRNETT, RJ ;
ROSENBERG, LE .
EXPERIMENTAL CELL RESEARCH, 1975, 92 (02) :383-393
[9]  
MERIN S, 1975, INVEST OPHTH VISUAL, V14, P437
[10]  
NADLER HL, 1970, LANCET, V2, P369