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：

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

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[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
GATTI, R
BORRONE, C
DEVIRGILIS, S
SANNA, G
CAO, A
VONFIGURA, K
KRESSE, H
PASCHKE, E
DURAND, P
[J]. 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
KLEIN, U
KRESSE, H
VONFIGURA, K
[J]. 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
KRESSE, H
[J]. 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
KRESSE, H
PASCHKE, E
VONFIGURA, K
GILBERG, W
FUCHS, W
[J]. 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