MUCOPOLYSACCHARIDOSIS II (HUNTER DISEASE) WITH CORNEAL OPACITIES - REPORT ON 2 PATIENTS AT EXTREMES OF A WIDE CLINICAL SPECTRUM

被引：5

作者：

SPRANGER, J

CANTZ, M

GEHLER, J

LIEBAERS, I

THEISS, W

机构：

[1] NIAMDD,HUMAN BIOCHEM GENET,BETHESDA,MD 20014

[2] STADT KRANENANSTALTEN BENRATH,D-4000 DUSSELDORF,FED REP GER

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1978年 / 129卷 / 01期

关键词：

D O I：

10.1007/BF00441369

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

引用

页码：11 / 16

页数：6

共 17 条

[1] DEFECT IN HUNTER SYNDROME - DEFICIENCY OF SULFOIDURONATE SULFATASE [J].

BACH, G ;

EISENBERG, F ;

CANTZ, M ;

NEUFELD, EF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1973, 70 (07) :2134-2138

[2]

CANTZ M, 1972, J BIOL CHEM, V247, P5456

[3]

CANTZ M, 1972, METHOD ENZYMOL, V28, P884

[4]

DANES BS, 1973, CLIN GENET, V4, P1

[5] DEFECT IN HURLER AND HUNTER SYNDROMES, .2. DEFICIENCY OF SPECIFIC FACTORS INVOLVED IN MUCOPOLYSACCHARIDE DEGRADATION [J].

FRATANTO.JC ;

HALL, CW ;

NEUFELD, EF .

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1969, 64 (01) :360-&

[6]

GARDNER RJM, 1974, LANCET, V2, P845

[7]

GEHLER J, 1974, HUMANGENETIK, V23, P149

[8] ALPHA-L-IDURONIDASE ACTIVITY IN CULTURED SKIN FIBROBLASTS AND AMNIOTIC-FLUID CELLS [J].

HALL, CW ;

NEUFELD, EF .

ARCHIVES OF BIOCHEMISTRY AND BIOPHYSICS, 1973, 158 (02) :817-821

[9]

LICHTENSTEIN JR, 1972, JOHNS HOPKINS MED J, V131, P425

[10] IDURONATE SULFATASE ACTIVITY IN SERUM, LYMPHOCYTES, AND FIBROBLASTS - SIMPLIFIED DIAGNOSIS OF HUNTER SYNDROME [J].

LIEBAERS, I ;

NEUFELD, EF .

PEDIATRIC RESEARCH, 1976, 10 (08) :733-736

← 1 2 →