SANFILIPPO TYPE-D DISEASE - CLINICAL FINDINGS IN 2 PATIENTS WITH A NEW VARIANT OF MUCOPOLYSACCHARIDOSIS-III

被引：27

作者：

GATTI, R

BORRONE, C

DEVIRGILIS, S

SANNA, G

CAO, A

VONFIGURA, K

KRESSE, H

PASCHKE, E

DURAND, P

机构：

[1] IST GIANNINA GASLINI,DEPT PEDIAT,I-16148 GENOA,ITALY

[2] UNIV CAGLIARI,DEPT PEDIAT 2,I-09100 CAGLIARI,ITALY

[3] UNIV MUNSTER,INST PHYSIOL CHEM,D-4400 MUNSTER,FED REP GER

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1982年 / 138卷 / 02期

关键词：

D O I：

10.1007/BF00441147

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：168 / 171

页数：4

共 15 条

[1]

CANTZ M, 1972, METHOD ENZYMOL, V28, P884

[2] N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASE DEFICIENCY RECONSIDERED [J].

DIFERRANTE, N .

SCIENCE, 1980, 210 (4468) :448-448

[3] N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASE IN MAN - DEFICIENCY OF ENZYME IN A NEW MUCOPOLYSACCHARIDOSIS [J].

GINSBERG, LC ;

DONNELLY, PV ;

DIFERRANTE, DT ;

DIFERRANTE, N ;

CASKEY, CT .

PEDIATRIC RESEARCH, 1978, 12 (07) :805-809

[4] SEQUENTIAL THIN-LAYER CHROMATOGRAPHY OF URINARY ACIDIC GLYCOSAMINOGLYCANS [J].

HUMBEL, R ;

CHAMOLES, NA .

CLINICA CHIMICA ACTA, 1972, 40 (01) :290-&

[5] SANFILIPPO SYNDROME TYPE-C - DEFICIENCY OF ACETYL-COA - ALPHA-GLUCOSAMINIDE N-ACETYLTRANSFERASE IN SKIN FIBROBLASTS [J].

KLEIN, U ;

KRESSE, H ;

VONFIGURA, K .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1978, 75 (10) :5185-5189

[6] MUCOPOLYSACCHARIDOSIS III A (SANFILIPPO A DISEASE) - DEFICIENCY OF A HEPARIN SULFAMIDASE IN SKIN FIBROBLASTS AND LEUKOCYTES [J].

KRESSE, H .

BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS, 1973, 54 (03) :1111-1118

[7]

KRESSE H, 1972, J BIOL CHEM, V247, P2164

[8] SANFILIPPO DISEASE TYPE-D - DEFICIENCY OF N-ACETYLGLUCOSAMINE-6-SULFATE SULFATASE REQUIRED FOR HEPARAN-SULFATE DEGRADATION [J].

KRESSE, H ;

PASCHKE, E ;

VONFIGURA, K ;

GILBERG, W ;

FUCHS, W .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA-BIOLOGICAL SCIENCES, 1980, 77 (11) :6822-6826

[9]

MAROTEAUX P, 1963, PRESSE MED, V71, P2091

[10] SANFILIPPO A SYNDROME - SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER [J].

MATALON, R ;

DORFMAN, A .

JOURNAL OF CLINICAL INVESTIGATION, 1974, 54 (04) :907-912

← 1 2 →