Clinical Chemistry
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Clinical Chemistry 52: 1660-1668, 2006. First published July 13, 2006; 10.1373/clinchem.2005.064915
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(Clinical Chemistry. 2006;52:1660-1668.)
© 2006 American Association for Clinical Chemistry, Inc.

Reviews

Immunochemistry of Lysosomal Storage Disorders

Emma Parkinson-Lawrence, Maria Fuller, John J. Hopwood, Peter J. Meikle and Doug A. Brooksa

Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women’s Health Service, North Adelaide, South Australia, Australia, and Department of Paediatrics, University of Adelaide, Adelaide, South Australia, Australia.

aAddress correspondence to this author at: Lysosomal Diseases Research Unit, Department of Genetic Medicine, Children, Youth and Women’s Health Service, 72 King William Rd., North Adelaide, South Australia 5006, Australia. Fax 61-8-8161-7100; e-mail douglas.brooks{at}adelaide.edu.au.

Background: Lysosomal storage disorders are a group of genetic diseases, each with a broad spectrum of clinical presentation that ranges from attenuated to severe. The immunochemical analysis of patient samples is aimed at several key aspects of patient management, including early detection of the disorder, prediction of clinical severity, determining the most appropriate therapeutic regimen, and monitoring of patients on therapy.

Methods: In this study, we review the current and emerging technology available to achieve these assessments.

Results: Immune assays have direct practical application for the early detection, diagnosis and prognosis of lysosomal storage disorder patients. Multiplexing of these assays may provide a platform to allow newborn screening for multiple lysosomal storage disorders.

Conclusions: We have reviewed the immunochemical techniques available for the analysis of lysosomal storage disorder patient samples and advise that these may be used in conjunction with other technologies for effective patient management.




The following articles in journals at HighWire Press have cited this article:


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 Clin. Chem.Home page
V. R. De Jesus, X. K. Zhang, J. Keutzer, O. A. Bodamer, A. Muhl, J. J. Orsini, M. Caggana, R. F. Vogt, and W. H. Hannon
Development and Evaluation of Quality Control Dried Blood Spot Materials in Newborn Screening for Lysosomal Storage Disorders
Clin. Chem., January 1, 2009; 55(1): 158 - 164.
[Abstract] [Full Text] [PDF]


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