A SEVERE INFANTILE SIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MICROSCOPIC FEATURES

被引：51
作者：
AYLSWORTH, AS
THOMAS, GH
HOOD, JL
MALOUF, N
LIBERT, J
机构：
[1] UNIV N CAROLINA, SCH MED, DEPT PATHOL, CHAPEL HILL, NC 27514 USA
[2] UNIV LIBRE BRUXELLES, HOP ST PIERRE, DEPT OPHTHALMOL, B-1000 BRUSSELS, BELGIUM
[3] JOHNS HOPKINS UNIV, DEPT PEDIAT, BALTIMORE, MD 21218 USA
[4] JOHNS HOPKINS UNIV, DEPT MED, BALTIMORE, MD 21218 USA
[5] JOHNS HOPKINS UNIV, JOHN F KENNEDY INST, BALTIMORE, MD 21218 USA
来源：
JOURNAL OF PEDIATRICS | 1980年 / 96卷 / 04期
关键词：
D O I：
10.1016/S0022-3476(80)80734-7
中图分类号：
R72 [儿科学];
学科分类号：
100202 ;
摘要：
引用
收藏
页码：662 / 668
页数：7
相关论文
共 26 条
[1]  
BLAU EB, 1973, LAB INVEST, V28, P477
[2]   MOLECULAR-BASIS OF PROTEINURIA OF GLOMERULAR ORIGIN [J].
BRENNER, BM ;
HOSTETTER, TH ;
HUMES, HD .
NEW ENGLAND JOURNAL OF MEDICINE, 1978, 298 (15) :826-833
[3]   MUCOLIPIDOSIS-1 - INCREASED SIALIC-ACID CONTENT AND DEFICIENCY OF ANALPHA-N-ACETYLNEURAMINIDASE IN CULTURED FIBROBLASTS [J].
CANTZ, M ;
GEHLER, J ;
SPRANGER, J .
BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1977, 74 (02) :732-738
[4]  
DURAND P, 1977, HELV PAEDIATR ACTA, V32, P391
[5]   LUPUS NEPHRITIS IN A NEURONAL STORAGE DISEASE [J].
FEINFELD, DA ;
SCHOLNICK, HR ;
JANIS, R .
ARCHIVES OF INTERNAL MEDICINE, 1977, 137 (05) :693-694
[6]   DEFECT IN HURLERS AND HUNTERS SYNDROMES - FAULTY DEGRADATION OF MUCOPOLYSACCHARIDE [J].
FRATANTONI, JC ;
HALL, CW ;
NEUFELD, EF .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1968, 60 (02) :699-+
[7]   RAPID AND SENSITIVE ASSAY FOR NEURAMINIDASE - APPLICATION TO CULTURED FIBROBLASTS [J].
FRISCH, A ;
NEUFELD, EF .
ANALYTICAL BIOCHEMISTRY, 1979, 95 (01) :222-227
[8]   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-+
[9]   ISOLATED ACID NEURAMINIDASE DEFICIENCY - DISTINCT LYSOSOMAL STORAGE DISEASE [J].
KELLY, TE ;
GRAETZ, G .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1977, 1 (01) :31-46
[10]   ANALYSIS OF N-ACETYL-BETA-D-GLUCOSAMINIDASE IN MUCOLIPIDOSIS-II (I-CELL DISEASE) [J].
LIE, KK ;
THOMAS, GH ;
TAYLOR, HA ;
SENSENBRENNER, JA .
CLINICA CHIMICA ACTA, 1973, 45 (03) :243-248
123