Mutation Frequency of Three Neurodegenerative Lysosomal Storage Diseases: From Screening to Treatment?
Author:
Publisher
Elsevier BV
Subject
General Medicine
Reference43 articles.
1. Innovative treatments for lysosomal diseases;Cox;Best Pract Res Clin Endocrinol Metab,2015
2. Prevalence of lysosomal storage diseases in Portugal;Pinto;Eur J Hum Genet,2004
3. Efficient IDUA Gene Mutation Detection with Combined Use of dHPLC and Dried Blood Samples;Ribeiro;ISRN Mol Biol,2013
4. A global reference for human genetic variation;Auton;Nature,2015
5. Metachromatic leukodystrophy;von Figura,2001
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