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Dried Blood Spots Allow Targeted Screening to Diagnose Mucopolysaccharidosis and Mucolipidosis

Background: As patients with different types of mucopolysaccharidosis (MPS) and mucolipidosis (ML) may present with overlapping clinical features – including coarse face, hepatosplenomegaly, bone dysplasia and claw-hand deformities, collectively also called ‘MPS-like phenotype’, enzymatic and/or mol...

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Detalhes bibliográficos
Publicado no:JIMD Rep
Main Authors: Cobos, Paulina Nieves, Steglich, Cordula, Santer, René, Lukacs, Zoltan, Gal, Andreas
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4270870/
https://ncbi.nlm.nih.gov/pubmed/24798265
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2014_308
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