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|Title:||Diagnosis of lysosomal storage disorders: current techniques and future directions|
|Citation:||Expert Review of Molecular Diagnostics, 2004; 4(5):677-691|
|Publisher:||Future Drugs Ltd.|
|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.|
|Appears in Collections:||Paediatrics publications|
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