Literature DB >> 4246082

Scheie and Hurler syndromes: apparent identity of the biochemical defect.

U Wiesmann, E F Neufeld.   

Abstract

Fibroblasts cultured from the skin of Scheie and Hurler patients are deficient in the same specific factor required for normal mucopolysaccharide metabolism.

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Year:  1970        PMID： 4246082     DOI： 10.1126/science.169.3940.72

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


  14 in total

1.  A review and selection of simple laboratory methods used for the study of glycosaminoglycan excretion and the diagnosis of the mucopolysaccharidoses.

Authors:  C A Pennock
Journal:  J Clin Pathol       Date:  1976-02       Impact factor: 3.411

2.  The mucopolysaccharidoses.

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

3.  Our twenty-fifth.

Authors:  J V Neel
Journal:  Am J Hum Genet       Date:  1974-03       Impact factor: 11.025

4.  Phenotypic diversity of human diseases resulting from allelic series.

Authors:  V A McKusick
Journal:  Am J Hum Genet       Date:  1973-07       Impact factor: 11.025

Review 5.  Investigation of degenerative disease of the central nervous system.

Authors:  J Wilson
Journal:  Arch Dis Child       Date:  1972-04       Impact factor: 3.791

Review 6.  Mucopolysaccharidoses and mucolipidoses.

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

Review 7.  Adventures in viscous solutions.

Authors:  A Dorfman
Journal:  Mol Cell Biochem       Date:  1974-08-01       Impact factor: 3.396

8.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

Authors:  M Cantz; J Gehler
Journal:  Hum Genet       Date:  1976-06-29       Impact factor: 4.132

9.  Identification of mutations in the alpha-L-iduronidase gene (IDUA) that cause Hurler and Scheie syndromes.

Authors:  H S Scott; T Litjens; P V Nelson; P R Thompson; D A Brooks; J J Hopwood; C P Morris
Journal:  Am J Hum Genet       Date:  1993-11       Impact factor: 11.025

10.  The defect in the Hurler and Scheie syndromes: deficiency of -L-iduronidase.

Authors:  G Bach; R Friedman; B Weissmann; E F Neufeld
Journal:  Proc Natl Acad Sci U S A       Date:  1972-08       Impact factor: 11.205
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