Literature DB >> 21378615

Improved diagnostic procedures in attenuated mucopolysaccharidosis.

Chris Hendriksz1.   

Abstract

General physicians and rheumatologists play a key role in suspecting a diagnosis of mucopolysaccharidosis for a range of multi-organ presenting symptoms in adults. Prompt diagnosis and treatment maximizes outcomes for these rare and extremely debilitating diseases. Earlier diagnosis may help to prevent irreversible disease.

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Year:  2011        PMID： 21378615     DOI： 10.12968/hmed.2011.72.2.91

Source DB:  PubMed          Journal:  Br J Hosp Med (Lond)        ISSN： 1750-8460            Impact factor:   0.825


  3 in total

1.  Screening for Attenuated Forms of Mucopolysaccharidoses in Patients with Osteoarticular Problems of Unknown Etiology.

Authors:  Thabata Caroline da Rocha Siqueira; Carolina Fischinger Moura de Souza; Paulo Lompa; Mercedes Picarelli; Ilóite Scheibel; Fernanda Bender; Régis Guidobono; Maira Graeff Burin; Roberto Giugliani
Journal:  JIMD Rep       Date:  2015-08-28

2.  Mucopolysaccharidosis IVA (Morquio A syndrome) and VI (Maroteaux-Lamy syndrome): under-recognized and challenging to diagnose.

Authors:  Ralph S Lachman; Barbara K Burton; Lorne A Clarke; Scott Hoffinger; Shiro Ikegawa; Dong-Kyu Jin; Hiroki Kano; Ok-Hwa Kim; Christina Lampe; Nancy J Mendelsohn; Renée Shediac; Pranoot Tanpaiboon; Klane K White
Journal:  Skeletal Radiol       Date:  2014-01-04       Impact factor: 2.199

3.  Growth impairment and limited range of joint motion in children should raise suspicion of an attenuated form of mucopolysaccharidosis: expert opinion.

Authors:  Nathalie Guffon; Pierre Journeau; Anaïs Brassier; Juliane Leger; Bertrand Chevallier
Journal:  Eur J Pediatr       Date:  2019-02-11       Impact factor: 3.183
  3 in total

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