Literature DB >> 4978465

Hurler's syndrome: deficiency of a specific beta galactosidase isoenzyme.

M W Ho, J S O'Brien.   

Abstract

A marked deficiency of a specific thermolabile beta-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).

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Year:  1969        PMID： 4978465     DOI： 10.1126/science.165.3893.611

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


  17 in total

1.  Impaired elastogenesis in Hurler disease: dermatan sulfate accumulation linked to deficiency in elastin-binding protein and elastic fiber assembly.

Authors:  A Hinek; S E Wilson
Journal:  Am J Pathol       Date:  2000-03       Impact factor: 4.307

2.  GM1-generalized gangliosidosis variant with cardiomegaly.

Authors:  P F Benson; A Barbarik; S P Brown; T P Mann
Journal:  Postgrad Med J       Date:  1976-03       Impact factor: 2.401

3.  The mucopolysaccharidoses.

Authors:  C A Pennock; I C Barnes
Journal:  J Med Genet       Date:  1976-06       Impact factor: 6.318

4.  The separation and characterization of marmoset kidney beta-D-galactosidase and beta-D-glucosidase.

Authors:  R J Pierce; R G Price
Journal:  Biochem J       Date:  1977-12-01       Impact factor: 3.857

5.  Stimulation of rat liver beta-galactosidase activity by ions.

Authors:  F M Baccino; M F Zuretti; L Pernigotti
Journal:  Biochem J       Date:  1975-12       Impact factor: 3.857

Review 6.  Mucopolysaccharidoses and mucolipidoses.

Authors:  F Van Hoof
Journal:  J Clin Pathol Suppl (R Coll Pathol)       Date:  1974

7.  Correction of celluar metachromasia in cultured fibroblasts in several inherited mucopolysaccharidoses.

Authors:  B S Danes; A G Bearn
Journal:  Proc Natl Acad Sci U S A       Date:  1970-09       Impact factor: 11.205

8.  Fibroblast culture and inherited neurological diseases.

Authors:  G Stewart
Journal:  Proc R Soc Med       Date:  1971-02

9.  The separation and characterization of the methylumbelliferyl beta-galactosidases of human liver.

Authors:  P S Cheetham; N E Dance
Journal:  Biochem J       Date:  1976-07-01       Impact factor: 3.857

10.  The disorder of hyaluronic acid metabolism in cultured skin fibroblasts derived from a patient with the Hurler syndrome.

Authors:  R J Germinario; A Kahlenberg; L Pinsky
Journal:  Biochem J       Date:  1973-03       Impact factor: 3.857
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