Literature DB >> 21863056

Clinical utility gene card for: mucopolysaccharidosis type II.

Michael Beck1, Frits A Wijburg, Andreas Gal.   

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Year:  2011        PMID： 21863056      PMCID： PMC3234511          DOI： 10.1038/ejhg.2011.143

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  3 in total

Review 1.  Mucopolysaccharidosis type II: an update on mutation spectrum.

Authors:  Roseline Froissart; Isabel Moreira Da Silva; Irène Maire
Journal:  Acta Paediatr       Date:  2007-04       Impact factor: 2.299

Review 2.  Recognition and diagnosis of mucopolysaccharidosis II (Hunter syndrome).

Authors:  Rick Martin; Michael Beck; Christine Eng; Roberto Giugliani; Paul Harmatz; Verónica Muñoz; Joseph Muenzer
Journal:  Pediatrics       Date:  2008-02       Impact factor: 7.124

Review 3.  Mucopolysaccharidosis type II (Hunter syndrome): a clinical review and recommendations for treatment in the era of enzyme replacement therapy.

Authors:  J Edmond Wraith; Maurizio Scarpa; Michael Beck; Olaf A Bodamer; Linda De Meirleir; Nathalie Guffon; Allan Meldgaard Lund; Gunilla Malm; Ans T Van der Ploeg; Jiri Zeman
Journal:  Eur J Pediatr       Date:  2007-11-23       Impact factor: 3.183
  3 in total
  1 in total

1.  Clinical efficacy of enzyme replacement therapy in paediatric Hunter patients, an independent study of 3.5 years.

Authors:  Rosella Tomanin; Alessandra Zanetti; Francesca D'Avanzo; Angelica Rampazzo; Nicoletta Gasparotto; Rossella Parini; Antonia Pascarella; Daniela Concolino; Elena Procopio; Agata Fiumara; Andrea Borgo; Anna Chiara Frigo; Maurizio Scarpa
Journal:  Orphanet J Rare Dis       Date:  2014-09-18       Impact factor: 4.123
  1 in total

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