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Clinical Rheumatology
Published in: Clinical Rheumatology 5/2008

01-05-2008 | Case Report

Glycogen storage disease manifested as gout and myopathy: three case reports and literature review

Authors: Wei Zhang, Chun-de Bao, Yue-ying Gu, Shuang Ye

Published in: Clinical Rheumatology | Issue 5/2008

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Abstract

Glycogen storage diseases (GSDs) are a group of congenital inherited metabolic diseases. They may present the symptoms of muscle and joint which may be misdiagnosed with some rheumatic diseases. We report three cases of GSDs in order to have a more clear recognition of the disease and to discuss the differential diagnosis.
Literature
1.
Chou JY, Matern D, Mansfield BC et al (2002) Type I glycogen storage diseases: disorders of the glucose-6-phosphatase complex. Curr Mol Med 2(2):121–143PubMed
2.
Kishnani PS, Hwu WL, Mandel H et al (2006) A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease. J Pediatr 148(5):671–676PubMedCrossRef
3.
Ausems MG, ten Berg K, Beemer FA (2000) Phenotypic expression of late-onset glycogen storage disease type II: identification of asymptomatic adults through family studies and review of reported families. Neuromuscul Disord 10(7):467–471PubMedCrossRef
4.
Winkel LP, Hagemans ML, van Doorn PA (2005) The natural course of non-classic Pompe’s disease: a review of 225 published cases. J Neurol 252(8):875–884PubMedCrossRef
5.
Kishnani PS, Nicolino M, Voit T et al (2006) Chinese hamster ovary cell-derived recombinant human acid alpha-glucosidase in infantile-onset Pompe disease. J Pediatr 149(1):89–97PubMedCrossRef
6.
Van den Hout JM, Kamphoven JH, Winkel LP et al (2004) Long-term intravenous treatment of Pompe disease with recombinant human alpha-glucosidase from milk. Pediatrics 113(5):e448–e457PubMedCrossRef
Metadata
Title
Glycogen storage disease manifested as gout and myopathy: three case reports and literature review
Authors
Wei Zhang
Chun-de Bao
Yue-ying Gu
Shuang Ye
Publication date
01-05-2008
Publisher
Springer-Verlag
Published in
Clinical Rheumatology / Issue 5/2008
Print ISSN: 0770-3198
Electronic ISSN: 1434-9949
DOI
https://doi.org/10.1007/s10067-007-0798-4

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