Literature DB >> 30255193

4-year-old boy referring for diffuse joint stiffness and progressive bilateral visual impairment.

Vinh Dat-Minh Le1, Paolo Simoni2.   

Abstract

Entities:  

Keywords:  Children; Dysostosis multiplex; Growth deficits; Hip dysplasia; Human; Mucopolysaccharidosis type VI

Year:  2019        PMID： 30255193     DOI： 10.1007/s00256-018-3077-3

Source DB:  PubMed          Journal:  Skeletal Radiol        ISSN： 0364-2348            Impact factor:   2.199


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  6 in total

Review 1.  Orthopaedic aspects of mucopolysaccharidoses.

Authors:  Klane K White
Journal:  Rheumatology (Oxford)       Date:  2011-12       Impact factor: 7.580

Review 2.  Management guidelines for mucopolysaccharidosis VI.

Authors:  Roberto Giugliani; Paul Harmatz; James E Wraith
Journal:  Pediatrics       Date:  2007-08       Impact factor: 7.124

3.  Up to five years experience with 11 mucopolysaccharidosis type VI patients.

Authors:  Marion M M G Brands; Esmee Oussoren; George J G Ruijter; Audrey A M Vollebregt; Hannerieke M P van den Hout; Koen F M Joosten; Wim C J Hop; Iris Plug; Ans T van der Ploeg
Journal:  Mol Genet Metab       Date:  2013-03-04       Impact factor: 4.797

Review 4.  Mucopolysaccharidosis VI.

Authors:  Vassili Valayannopoulos; Helen Nicely; Paul Harmatz; Sean Turbeville
Journal:  Orphanet J Rare Dis       Date:  2010-04-12       Impact factor: 4.123

5.  Mucopolysaccharidosis I, II, and VI: Brief review and guidelines for treatment.

Authors:  Roberto Giugliani; Andressa Federhen; Maria Verônica Muñoz Rojas; Taiane Vieira; Osvaldo Artigalás; Louise Lapagesse Pinto; Ana Cecília Azevedo; Angelina Acosta; Carmen Bonfim; Charles Marques Lourenço; Chong Ae Kim; Dafne Horovitz; Denize Bonfim; Denise Norato; Diane Marinho; Durval Palhares; Emerson Santana Santos; Erlane Ribeiro; Eugênia Valadares; Fábio Guarany; Gisele Rosone de Lucca; Helena Pimentel; Isabel Neves de Souza; Jordão Correa; José Carlos Fraga; José Eduardo Goes; José Maria Cabral; José Simionato; Juan Llerena; Laura Jardim; Liane Giuliani; Luiz Carlos Santana da Silva; Mara L Santos; Maria Angela Moreira; Marcelo Kerstenetzky; Márcia Ribeiro; Nicole Ruas; Patricia Barrios; Paulo Aranda; Rachel Honjo; Raquel Boy; Ronaldo Costa; Carolina Souza; Flavio F Alcantara; Silvio Gilberto A Avilla; Simone Fagondes; Ana Maria Martins
Journal:  Genet Mol Biol       Date:  2010-12-01       Impact factor: 1.771

Review 6.  Diagnostic and treatment strategies in mucopolysaccharidosis VI.

Authors:  Filippo Vairo; Andressa Federhen; Guilherme Baldo; Mariluce Riegel; Maira Burin; Sandra Leistner-Segal; Roberto Giugliani
Journal:  Appl Clin Genet       Date:  2015-10-30
  6 in total

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