A SEVERE INFANTILE SIALIDOSIS (BETA-GALACTOSIDASE-ALPHA-NEURAMINIDASE DEFICIENCY) MIMICKING GM1-GANGLIOSIDOSIS TYPE-1

被引：14

作者：

OKADA, S

SUGINO, H

KATO, T

YUTAKA, T

KOIKE, M

DEZAWA, T

YAMANO, T

YABUUCHI, H

机构：

[1] SAISEIKAI ARITA HOSP,PEDIAT CLIN,WAKAYAMA 643,JAPAN

[2] SHIGA MED COLL,DEPT PEDIAT,OTSU,SHIGA 52021,JAPAN

[3] WAKAYAMA MED COLL,DEPT PEDIAT,WAKAYAMA,JAPAN

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1983年 / 140卷 / 04期

关键词：

D O I：

10.1007/BF00442667

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：295 / 298

页数：4

共 23 条

[1] A SEVERE INFANTILE SIALIDOSIS - CLINICAL, BIOCHEMICAL, AND MICROSCOPIC FEATURES [J].

AYLSWORTH, AS ;

THOMAS, GH ;

HOOD, JL ;

MALOUF, N ;

LIBERT, J .

JOURNAL OF PEDIATRICS, 1980, 96 (04) :662-668

[2] MOLECULAR DEFECT IN COMBINED BETA-GALACTOSIDASE AND NEURAMINIDASE DEFICIENCY IN MAN [J].

DAZZO, A ;

HOOGEVEEN, A ;

REUSER, AJJ ;

ROBINSON, D ;

GALJAARD, H .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1982, 79 (15) :4535-4539

[3] GENETIC-HETEROGENEITY IN GM1-GANGLIOSIDOSIS [J].

GALJAARD, H ;

HOOGEVEEN, A ;

KEIJZER, W ;

DEWITVERBEEK, HA ;

REUSER, AJJ ;

HO, MW ;

ROBINSON, D .

NATURE, 1975, 257 (5521) :60-62

[4]

GRAVEL RA, 1979, AM J HUM GENET, V31, P669

[5] INTERGENIC COMPLEMENTATION AFTER FUSION OF FIBROBLASTS FROM DIFFERENT PATIENTS WITH BETA-GALACTOSIDASE DEFICIENCY [J].

HOEKSEMA, HL ;

VANDIGGELEN, OP ;

GALJAARD, H .

BIOCHIMICA ET BIOPHYSICA ACTA, 1979, 566 (01) :72-79

[6] HISTOCHEMICAL-DEMONSTRATION OF ACID BETA-D-GALACTOSIDASE ACTIVITY IN CULTURED HUMAN-SKIN FIBROBLASTS AND ITS APPLICATION TO SINGLE CELL ANALYSES [J].

KATO, T ;

INUI, K ;

YUTAKA, T ;

OKADA, S ;

YABUUCHI, H ;

CHIYO, H ;

FURUYAMA, JI .

ACTA HISTOCHEMICA ET CYTOCHEMICA, 1981, 14 (04) :343-349

[7] BETA-GALACTOSIDASE DEFICIENT-TYPE MUCOLIPODOSIS - COMPLEMENTATION STUDY OF NEURAMINIDASE IN SOMATIC-CELL HYBRIDS [J].

KATO, T ;

OKADA, S ;

YUTAKA, T ;

INUI, K ;

YABUUCHI, H ;

CHIYO, H ;

FURUYAMA, J ;

OKADA, Y .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1979, 91 (01) :114-117

[8]

LESEC G, 1978, ARCH FR PEDIATR, V35, P830

[9]

LOWDEN JA, 1979, AM J HUM GENET, V31, P1

[10]

MAROTEAUX P, 1978, ARCH FR PEDIATR, V35, P819

← 1 2 3 →