MUCOLIPIDOSIS-4 - CLINICAL, ULTRASTRUCTURAL, HISTOCHEMICAL, AND CHEMICAL STUDIES OF A CASE, INCLUDING A BRAIN BIOPSY

被引:87
作者
TELLEZNAGEL, I
RAPIN, I
IWAMOTO, T
JOHNSON, AB
NORTON, WT
NITOWSKY, H
机构
[1] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,DEPT PATHOL,BRONX,NY 10461
[2] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,DEPT MED,BRONX,NY 10461
[3] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,DEPT PEDIAT,BRONX,NY 10461
[4] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,SAUL R KOREY DEPT NEUROL,BRONX,NY 10461
[5] YESHIVA UNIV,ALBERT EINSTEIN COLL MED,ROSE F KENNEDY CTR RES MENTAL RETARDATION & HUMAN DEV,BRONX,NY 10461
[6] COLUMBIA UNIV,COLL PHYS & SURG,INST EYE,NEW YORK,NY 10032
关键词
D O I
10.1001/archneur.1976.00500120032005
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:828 / 835
页数:8
相关论文
共 45 条
[1]  
BARTMAN J, 1970, ARCH PATHOL, V89, P229
[2]   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
[3]   GLYCOPROTEIN DEGRADATION - GLYCOSIDASES IN FIBROBLASTS TRANSFORMED BY ONCOGENIC VIRUSES [J].
BOSMANN, HB .
EXPERIMENTAL CELL RESEARCH, 1969, 54 (02) :217-&
[4]  
DALTON AJ, 1955, ANAT REC, V121, P281
[5]  
DANES BS, 1970, J EXP MED, V132, P744
[6]  
DAVIDSON RG, 1973, NATURE, V199, P296
[7]  
DUFFY PE, 1968, J NEUROPATHOL EXP NE, V27, P357
[8]   GM1-GANGLIOSIDOSIS - OCULAR AND PATHOLOGICAL MANIFESTATIONS [J].
EMERY, JM ;
GREEN, WR ;
WYLLIE, RG ;
HOWELL, RR .
ARCHIVES OF OPHTHALMOLOGY, 1971, 85 (02) :177-&
[9]   BRAIN SPHINGOGLYCOLIPIDS IN KRABBES GLOBOID CELL LEUCODYSTROPHY [J].
ETO, Y ;
SUZUKI, K .
JOURNAL OF NEUROCHEMISTRY, 1971, 18 (03) :503-&
[10]   MACULAR CHERRY-RED SPOT, CORNEAL CLOUDING, AND BETA-GALACTOSIDASE DEFICIENCY [J].
GOLDBERG, MF ;
COTLIER, E ;
FICHENSCHER, LG ;
KENYON, K ;
ENAT, R ;
BOROWSKY, SA .
ARCHIVES OF INTERNAL MEDICINE, 1971, 128 (03) :387-+