HURLERS SYNDROME - DEFICIENCY OF A SPECIFIC BETA GALACTOSIDASE ISOENZYME

被引：104

作者：

HO, MW

OBRIEN, JS

机构：

[1] Department of Neurosciences, School of Medicine, University of California at San Diego, San Diego

来源：

SCIENCE | 1969年 / 165卷 / 3893期

关键词：

D O I：

10.1126/science.165.3893.611

中图分类号：

O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];

学科分类号：

07 ; 0710 ; 09 ;

摘要：

A marked deficiency of a specific thermolabile β-galactosidase isoenzyme (pH optimum 3 to 5) was found in liver and kidney tissues of five patients with the Hurler's syndrome (types 1 to 3).

引用

页码：611 / &

共 12 条

[1]

FRANTANTONI JC, 1968, P NATL ACAD SCI USA, V60, P699

[2]

LAGUNOFF D, 1966, LAB INVEST, V15, P1578

[3] STRUCTURE COMPARISON OF MAJOR MONOSIALOGANGLIOSIDES FROM BRAINS OF NORMAL HUMAN GARGOYLISM AND LATE INFANTILE SYSTEMIC LIPIDOSIS .I. [J].

LEDEEN, R ;

SALSMAN, K ;

GONATAS, J ;

TAGHAVY, A .

JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY, 1965, 24 (02) :341-&

[4]

MACBRINN MC, IN PRESS

[5]

MCKUSICK VA, 1966, HERITABLE DISORDERS, P325

[6] ACID HYDROLASES IN SKIN AND PLASMA IN GARGOYLISM DEFICIENCY OF BETA-GALACTOSIDASE IN SKIN [J].

OCKERMAN, PA .

CLINICA CHIMICA ACTA, 1968, 20 (01) :1-&

[7] FRACTIONATION OF 4-METHYLUMBELLIFERYL-BETA-GALACTOSIDASE ACTIVITIES IN LIVER IN GARGOYLISM [J].

OCKERMAN, PA ;

HULTBERG, B .

SCANDINAVIAN JOURNAL OF CLINICAL & LABORATORY INVESTIGATION, 1968, 22 (03) :199-&

[8] GENERALIZED GANGLIOSIDOSIS - BETA-GALACTOSIDASE DEFICIENCY [J].

OKADA, S ;

OBRIEN, JS .

SCIENCE, 1968, 160 (3831) :1002-&

[9] SPEARATION AND PROPERTIES OF BETA-GALACTOSIDASE BETA-GLUCOSIDASE BETA-GLUCURONIDASE AND N-ACETYL-BETA-GLUCOSAMINIDASE FROM RAT KIDNEY [J].

ROBINSON, D ;

PRICE, RG ;

DANCE, N .

BIOCHEMICAL JOURNAL, 1967, 102 (02) :525-&

[10] IMPROVED PROCEDURE FOR STARCH-GEL ELECTROPHORESIS - FURTHER VARIATIONS IN THE SERUM PROTEINS OF NORMAL INDIVIDUALS [J].

SMITHIES, O .

BIOCHEMICAL JOURNAL, 1959, 71 :585-&

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