Newborn Screening for Lysosomal Storage Disorders in Hungary

Even though lysosomal storage disorders (LSDs) are considered to be orphan diseases, they pose a highly relevant cause for morbidity and mortality as their cumulative prevalence is estimated to be 1:4,000. This is especially important as treatment in form of enzyme replacement therapy, substrate red...

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Autors principals: Wittmann, Judit, Karg, Eszter, Turi, Sàndor, Legnini, Elisa, Wittmann, Gyula, Giese, Anne-Katrin, Lukas, Jan, Gölnitz, Uta, Klingenhäger, Michael, Bodamer, Olaf, Mühl, Adolf, Rolfs, Arndt
Format: Artigo
Idioma:Inglês
Publicat: Springer Berlin Heidelberg 2012
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3565645/
https://ncbi.nlm.nih.gov/pubmed/23430949
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2012_130
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