SANFILIPPO SYNDROME TYPE-D

被引：16

作者：

KAPLAN, P

WOLFE, LS

机构：

[1] MCGILL UNIV, MONTREAL CHILDRENS HOSP, RES INST, MONTREAL H3H 1P3, QUEBEC, CANADA

[2] MONTREAL NEUROL INST & HOSP, DONNER LAB EXPTL NEUROCHEM, MONTREAL H3A 2B4, QUEBEC, CANADA

来源：

JOURNAL OF PEDIATRICS | 1987年 / 110卷 / 02期

关键词：

D O I：

10.1016/S0022-3476(87)80171-3

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：267 / 271

页数：5

共 5 条

[1] CLINICAL HETEROGENEITY IN SANFILIPPO DISEASE (MUCOPOLYSACCHARIDOSIS-III) TYPE-D - PRESENTATION OF 2 NEW CASES [J].

COPPA, GV ;

GIORGI, PL ;

FELICI, L ;

GABRIELLI, O ;

DONTI, E ;

BERNASCONI, S ;

KRESSE, H ;

PASCHKE, E ;

MASTROPAOLO, C .

EUROPEAN JOURNAL OF PEDIATRICS, 1983, 140 (02) :130-133

[2] 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

[3] 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

[4]

MCKUSICK VA, 1983, METABOLIC BASIS INHE, P751

[5]

VANDEKAMP JJP, 1981, CLIN GENET, V20, P152

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