KERATAN AND HEPARAN SULFATURIA - A MUCOPOLYSACCHARIDOSIS WITH AN ENZYME DEFECT NOT PREVIOUSLY IDENTIFIED

被引：2

作者：

MATALON, R

WAPPNER, R

DEANCHING, M

BRANDT, IK

HORWITZ, A

机构：

来源：

JOURNAL OF INHERITED METABOLIC DISEASE | 1982年 / 5卷

关键词：

D O I：

10.1007/BF01799827

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：57 / 58

页数：2

共 8 条

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

DIFERRANTE, N .

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

[2] DEFICIENCIES OF GLUCOSAMINE-6-SULFATE OR GALACTOSAMINE-6-SULFATE SULFATASES ARE RESPONSIBLE FOR DIFFERENT MUCOPOLYSACCHARIDOSES [J].

DIFERRANTE, N ;

GINSBERG, LC ;

DONNELLY, PV ;

DIFERRANTE, DT ;

CASKEY, CT .

SCIENCE, 1978, 199 (4324) :79-81

[3]

DORFMAN A, 1972, METABOLIC BASIS INHE, P1218

[4] 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

[5]

LANGUNOFF D, 1962, ARCH BIOCHEM BIOPHYS, V99, P396

[6] KERATAN AND HEPARAN SULFATURIA - NEW MUCOPOLYSACCHARIDOSIS WITH N-ACETYLGLUCOSAMINE 6- SULFATASE DEFICIENCY [J].

MATALON, R ;

HOROWITZ, A ;

WAPPNER, R ;

BRANDT, I ;

DEANCHING, M .

PEDIATRIC RESEARCH, 1978, 12 (04) :453-453

[7] 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

[8]

MATALON R, 1977, PEDIATR RES, V11, P519, DOI 10.1203/00006450-197704000-00898

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