Literature DB >> 10929420

Mannosidosis: an unusual cause of a deforming arthropathy.

D E DeFriend1, A E Brown, C W Hutton, P M Hughes.   

Abstract

We report on a case of a deforming arthropathy in a young man with a lysosomal storage disorder. A 31-year-old man with a known diagnosis of mannosidosis presented with a painful swollen right elbow. Radiographs of his right elbow showed a disorganised joint with multiple fragments resembling the appearances of a neuropathic joint. This case provides further evidence that a deforming arthropathy may occur as part of the spectrum of skeletal abnormalities seen in mannosidosis.

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Year:  2000        PMID: 10929420     DOI: 10.1007/s002560000213

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


  3 in total

1.  Destructive joint disease in alpha-mannosidosis. A case report and review of the literature.

Authors:  A H Gerards; W P C A Winia; J Westerga; B A C Dijkmans; R M van Soesbergen
Journal:  Clin Rheumatol       Date:  2003-11-13       Impact factor: 2.980

Review 2.  Alpha-mannosidosis.

Authors:  Dag Malm; Øivind Nilssen
Journal:  Orphanet J Rare Dis       Date:  2008-07-23       Impact factor: 4.123

3.  Intellectual functioning in alpha-mannosidosis.

Authors:  Sara S Cathey; Sara M Sarasua; Richard Simensen; Katie Pietris; Gordon Kimbrell; David Sillence; Callum Wilson; Lucia Horowitz
Journal:  JIMD Rep       Date:  2019-09-21
  3 in total

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