ENZYMATIC DIAGNOSIS OF THE MUCOPOLYSACCHARIDOSES - EXPERIENCE OF 96 CASES DIAGNOSED IN A 5-YEAR PERIOD

被引：52

作者：

HOPWOOD, JJ

MULLER, V

HARRISON, JR

CAREY, WF

ELLIOTT, H

ROBERTSON, EF

POLLARD, AC

机构：

来源：

MEDICAL JOURNAL OF AUSTRALIA | 1982年 / 1卷 / 06期

关键词：

D O I：

10.5694/j.1326-5377.1982.tb132293.x

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

引用

页码：257 / 260

页数：4

共 24 条

[1]

FUJIMOTO A, 1981, PEDIATR RES, V5, P561

[2]

GARDNER RJM, 1974, LANCET, V2, P845

[3] THE DIAGNOSIS OF THE SANFILIPPO-C SYNDROME, USING MONOSACCHARIDE AND OLIGOSACCHARIDE SUBSTRATES TO ASSAY ACETYL-COA - 2-AMINO-2-DEOXY-ALPHA-GLUCOSIDE N-ACETYLTRANSFERASE ACTIVITY [J].

HOPWOOD, JJ ;

ELLIOTT, H .

CLINICA CHIMICA ACTA, 1981, 112 (01) :67-75

[4] SELECTIVE DEPOLYMERIZATION OF HEPARIN TO PRODUCE RADIOLABELED SUBSTRATES FOR SULFAMIDASE, 2-ACETAMIDO-2-DEOXY-ALPHA-D-GLUCOSIDASE, ACETYL-COA-2-AMINO-2-DEOXY-ALPHA-D-GLUCOSIDE N-ACETYLTRANSFERASE, AND 2-ACETAMIDO-2-DEOXY-D-GLUCOSE 6-SULFATE SULFATASE [J].

HOPWOOD, JJ ;

ELLIOTT, H .

CARBOHYDRATE RESEARCH, 1981, 91 (02) :165-190

[5] FLUOROMETRIC ASSAY USING 4-METHYLUMBELLIFERYL ALPHA-L-IDURONIDE FOR THE ESTIMATION OF ALPHA-L-IDURONIDASE ACTIVITY AND THE DETECTION OF HURLER AND SCHEIE SYNDROMES [J].

HOPWOOD, JJ ;

MULLER, V ;

SMITHSON, A ;

BAGGETT, N .

CLINICA CHIMICA ACTA, 1979, 92 (02) :257-265

[6] POSTNATAL AND PRENATAL ASSESSMENT OF ALPHA-L-IDURONIDASE DEFICIENCY WITH A RADIOLABELED NATURAL SUBSTRATE [J].

HOPWOOD, JJ ;

MULLER, V ;

POLLARD, AC .

CLINICAL SCIENCE, 1979, 56 (06) :591-599

[7] BIOCHEMICAL DISCRIMINATION OF HURLER AND SCHEIE SYNDROMES [J].

HOPWOOD, JJ ;

MULLER, V .

CLINICAL SCIENCE, 1979, 57 (03) :265-272

[8] RADIOLABELED OLIGOSACCHARIDES AS SUBSTRATES FOR THE ESTIMATION OF SULFAMIDASE AND THE DETECTION OF THE SANFILIPPO TYPE-A SYNDROME [J].

HOPWOOD, JJ ;

ELLIOTT, H .

CLINICA CHIMICA ACTA, 1981, 112 (01) :55-66

[9]

HOPWOOD JJ, 1981, CLIN CHIM ACTA

[10]

HOPWOOD JJ, 1979, AUST PAEDIATR J, V15, P287

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