CLINICAL HETEROGENEITY IN SANFILIPPO DISEASE (MUCOPOLYSACCHARIDOSIS-III) TYPE-D - PRESENTATION OF 2 NEW CASES

被引：27

作者：

COPPA, GV

GIORGI, PL

FELICI, L

GABRIELLI, O

DONTI, E

BERNASCONI, S

KRESSE, H

PASCHKE, E

MASTROPAOLO, C

机构：

[1] UNIV SASSARI,INST PEDIAT NEUROPSYCHIAT,I-07100 SASSARI,ITALY

[2] UNIV PERUGIA,DEPT BIOL,I-06100 PERUGIA,ITALY

[3] UNIV PARMA,DEPT PEDIAT,I-43100 PARMA,ITALY

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

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1983年 / 140卷 / 02期

关键词：

D O I：

10.1007/BF00441662

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：130 / 133

页数：4

共 17 条

[1]

COPPA GV, 1978, BIOL NEONATE, V33, P18

[2]

COPPA GV, 1977, ITAL J PEDIAT, V3, P45

[3]

DIFERRANTE N, 1972, CONNECTIVE TISSUE RE, V1, P93

[4] SANFILIPPO TYPE-D DISEASE - CLINICAL FINDINGS IN 2 PATIENTS WITH A NEW VARIANT OF MUCOPOLYSACCHARIDOSIS-III [J].

GATTI, R ;

BORRONE, C ;

DEVIRGILIS, S ;

SANNA, G ;

CAO, A ;

VONFIGURA, K ;

KRESSE, H ;

PASCHKE, E ;

DURAND, P .

EUROPEAN JOURNAL OF PEDIATRICS, 1982, 138 (02) :168-171

[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]

KRESSE H, 1981, J BIOL CHEM, V256

[10]

MATALON R, 1982, ANN CLIN LAB SCI, V12, P234

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