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Clinical Chemistry 0: clinchem.2005.064915v1, 2006; 10.1373/clinchem.2005.064915
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Received on December 5, 2005
Accepted on June 15, 2006

Molecular Diagnostics and Genetics

Immunochemistry of Lysosomal Storage Disorders

Emma Parkinson-Lawrence 1, Maria Fuller 1, John J. Hopwood 1, Peter J. Meikle 1, Doug A. Brooks 2

1 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
2 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

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


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[Abstract] [Full Text] [PDF]


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