Literature DB >> 6813001

Mucopolysaccharidosis type VII (beta-glucuronidase deficiency): a report of a new case and a survey of those in the literature.

A C Sewell, J Gehler, G Mittermaier, E Meyer.   

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Year:  1982        PMID： 6813001     DOI： 10.1111/j.1399-0004.1982.tb01389.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  10 in total

1.  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

2.  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

3.  Phenotypic expression in mucopolysaccharidosis VII.

Authors:  P L Bernsen; R A Wevers; F J Gabreëls; K J Lamers; A E Sonnen; J H Stekhoven
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-06       Impact factor: 10.154

4.  Elevation of glycosaminoglycans in the amniotic fluid of a fetus with mucopolysaccharidosis VII.

Authors:  Francyne Kubaski; Ana Carolina Brusius-Facchin; Robert W Mason; Pravin Patel; Maira G Burin; Kristiane Michelin-Tirelli; Rejane Gus Kessler; Fernanda Bender; Sandra Leistner-Segal; Carolina A Moreno; Denise P Cavalcanti; Roberto Giugliani; Shunji Tomatsu
Journal:  Prenat Diagn       Date:  2017-03-12       Impact factor: 3.050

5.  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

6.  Behavioral consequences of bone marrow transplantation in the treatment of murine mucopolysaccharidosis type VII.

Authors:  L Bastedo; M S Sands; D T Lambert; M A Pisa; E Birkenmeier; P L Chang
Journal:  J Clin Invest       Date:  1994-09       Impact factor: 14.808

7.  A pseudodeficiency allele (D152N) of the human beta-glucuronidase gene.

Authors:  R Vervoort; M R Islam; W Sly; A Chabas; R Wevers; J de Jong; I Liebaers; W Lissens
Journal:  Am J Hum Genet       Date:  1995-10       Impact factor: 11.025

8.  Intracisternal A-particle element transposition into the murine beta-glucuronidase gene correlates with loss of enzyme activity: a new model for beta-glucuronidase deficiency in the C3H mouse.

Authors:  B Gwynn; K Lueders; M S Sands; E H Birkenmeier
Journal:  Mol Cell Biol       Date:  1998-11       Impact factor: 4.272

9.  Clinical course of sly syndrome (mucopolysaccharidosis type VII).

Authors:  Adriana M Montaño; Ngu Lock-Hock; Robert D Steiner; Brett H Graham; Marina Szlago; Robert Greenstein; Mercedes Pineda; Antonio Gonzalez-Meneses; Mahmut Çoker; Dennis Bartholomew; Mark S Sands; Raymond Wang; Roberto Giugliani; Alfons Macaya; Gregory Pastores; Anastasia K Ketko; Fatih Ezgü; Akemi Tanaka; Laila Arash; Michael Beck; Rena E Falk; Kaustuv Bhattacharya; José Franco; Klane K White; Grant A Mitchell; Loreta Cimbalistiene; Max Holtz; William S Sly
Journal:  J Med Genet       Date:  2016-02-23       Impact factor: 6.318

10.  Neuromuscular degeneration and locomotor deficit in a Drosophila model of mucopolysaccharidosis VII is attenuated by treatment with resveratrol.

Authors:  Sudipta Bar; Mohit Prasad; Rupak Datta
Journal:  Dis Model Mech       Date:  2018-11-20       Impact factor: 5.758
  10 in total

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