Inherited Metabolic Disorders: Efficacy of Enzyme Assays on Dried Blood Spots for the Diagnosis of Lysosomal Storage Disorders

High consanguinity rates, poor access to accurate diagnostic tests, and costly therapies are the main causes of increased burden of lysosomal storage disorders (LSDs) in developing countries. Therefore, there is a major unmet need for accurate and economical diagnostic tests to facilitate diagnosis...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Verma, Jyotsna, Thomas, Divya C., Kasper, David C., Sharma, Sandeepika, Puri, Ratna D., Bijarnia-Mahay, Sunita, Mistry, Pramod K., Verma, Ishwar C.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2016
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC5388645/
https://ncbi.nlm.nih.gov/pubmed/27008195
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2016_548
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