Literature DB >> 4277583

Mucopolysaccharidosis. VII. Beta-glucuronidase deficiency.

J Gehler, M Cantz, M Tolksdorf, J Spranger, E Gilbert, H Drube.   

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Year:  1974        PMID： 4277583     DOI： 10.1007/bf00282212

Source DB:  PubMed          Journal:  Humangenetik        ISSN： 0018-7348


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  18 in total

1.  The assay of arylsulphatases A and B in human urine.

Authors:  H BAUM; K S DODGSON; B SPENCER
Journal:  Clin Chim Acta       Date:  1959-05       Impact factor: 3.786

2.  The determination of acid aminopolysaccharide in urine.

Authors:  N DIFERRANTE; C RICH
Journal:  J Lab Clin Med       Date:  1956-09

3.  A new specific color reaction of hexuronic acids.

Authors:  Z DISCHE
Journal:  J Biol Chem       Date:  1947-01       Impact factor: 5.157

4.  The determination of chondroitin sulfate C-type polysaccharides in mixtures with other acid mucopolysaccharides.

Authors:  M B MATHEWS; M INOUYE
Journal:  Biochim Biophys Acta       Date:  1961-11-11

5.  Differential staining of acid glycosaminoglycans (mucopolysaccharides) by alcian blue in salt solutions.

Authors:  J E Scott; J Dorling
Journal:  Histochemie       Date:  1965-10-01

6.  A -glucuronidase deficiency mucopolysaccharidosis: studies in cultured fibroblasts.

Authors:  C W Hall; M Cantz; E F Neufeld
Journal:  Arch Biochem Biophys       Date:  1973-03       Impact factor: 4.013

7.  Biochemical definition of the mucopolysaccharidoses.

Authors:  J W Spranger
Journal:  Z Kinderheilkd       Date:  1970

8.  Diagnosis of gaucher's disease and niemann-pick disease with small samples of venous blood.

Authors:  J P Kampine; R O Brady; J N Kanfer; M Feld; D Shapiro
Journal:  Science       Date:  1967-01-06       Impact factor: 47.728

9.  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

10.  [Type II mucolipidosis (I-cell disease)].

Authors:  R Walbaum; P Dehaene; W Scharfman; J P Farriaux; M Tondeur; E Vamos-Hurwitz; J A Kint; F Van Hoof
Journal:  Arch Fr Pediatr       Date:  1973 Jun-Jul
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  27 in total

1.  A new case of mucopolysaccharidosis VII presenting as non immune hydrops fetalis.

Authors:  Elisabeth Walter-Nicolet; Thameur Rakza; Laurent Storme; Catherine Vaillant; Eric Magnenant; Robin Cremer; Caroline Thumerelle; Dries Dobbelaere
Journal:  Eur J Pediatr       Date:  2003-05-14       Impact factor: 3.183

2.  Comprehensive urinary screening for inborn errors of complex carbohydrate metabolism.

Authors:  A C Sewell; J Gehler; J Spranger
Journal:  Klin Wochenschr       Date:  1979-06-01

3.  Normomorphic sialidosis in two female adults with severe neurologic disease and without sialyl oligosacchariduria.

Authors:  K Harzer; M Cantz; A C Sewell; S S Dhareshwar; W Roggendorf; R W Heckl; O Schofer; R Thumler; J Peiffer; W Schlote
Journal:  Hum Genet       Date:  1986-11       Impact factor: 4.132

4.  A murine model of mucopolysaccharidosis VII. Gross and microscopic findings in beta-glucuronidase-deficient mice.

Authors:  C Vogler; E H Birkenmeier; W S Sly; B Levy; C Pegors; J W Kyle; W G Beamer
Journal:  Am J Pathol       Date:  1990-01       Impact factor: 4.307

5.  The human gene for beta glucuronidase is on chromosome 7.

Authors:  U Francke
Journal:  Am J Hum Genet       Date:  1976-07       Impact factor: 11.025

6.  Urinary screening for disorders of heteroglycan metabolism. Results of 10 years experience with a comprehensive system.

Authors:  A C Sewell
Journal:  Klin Wochenschr       Date:  1988-01-15

7.  The value of CT in diagnosis and prognosis of different inborn neurodegenerative disorders in childhood.

Authors:  S Wende; B Ludwig; T Kishikawa; M Rochel; J Gehler
Journal:  J Neurol       Date:  1984       Impact factor: 4.849

8.  Molecular analysis of patients with beta-glucuronidase deficiency presenting as hydrops fetalis or as early mucopolysaccharidosis VII.

Authors:  R Vervoort; M R Islam; W S Sly; M T Zabot; W J Kleijer; A Chabas; A Fensom; E P Young; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

9.  The mucopolysaccharidoses: inborn errors of glycosaminoglycan catabolism.

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

10.  Prenatal diagnosis of mucolipidosis II (I-cell disease).

Authors:  J Gehler; M Cantz; M Stoeckenius; J Spranger
Journal:  Eur J Pediatr       Date:  1976-06-08       Impact factor: 3.183
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