Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7239
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Type: Journal article
Title: Diagnosis of lysosomal storage disorders: current techniques and future directions
Author: Meikle, P.
Fietz, M.
Hopwood, J.
Citation: Expert Review of Molecular Diagnostics, 2004; 4(5):677-691
Publisher: Future Drugs Ltd.
Issue Date: 2004
ISSN: 1473-7159
1744-8352
Statement of
Responsibility: 
Peter J Meikle, Michael J Fietz and John J Hopwood
Abstract: Lysosomal storage disorders represent a group of over 45 distinct genetic diseases. The broad spectrum of clinical presentation of this group of disorders has led to the development of diagnostic protocols to facilitate their rapid and accurate diagnosis. However, with the development of new therapies, testing for many of these disorders now extends beyond diagnosis of affected individuals. The efficacy of many current and proposed therapies will rely heavily upon early detection and treatment prior to the onset of irreversible pathology. Newborn screening holds the promise of early detection. However, presymptomatic diagnosis raises a number of issues relating to patient management and treatment. Methods for prognoses and monitoring therapy in asymptomatic individuals will be required.
Keywords: Carrier testing; enzyme analysis; lipidoses; lysosomal storage disorder; mass spectrometry; molecular analysis; monitoring therapy; mucopolysaccharidoses; oligosaccharidoses; prenatal testing
Description: Published online: 09 Jan 2014
Rights: © Future Drugs Ltd. All rights reserved.
RMID: 0020040928
DOI: 10.1586/14737159.4.5.677
Appears in Collections:Paediatrics publications

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