Journal article

Diagnosis of lysosomal storage disorders: current techniques and future directions

PJ Meikle, MJ Fietz, JJ Hopwood

Expert Review of Molecular Diagnostics | TAYLOR & FRANCIS AS | Published : 2004

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 trea..

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University of Melbourne Researchers