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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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| Vydáno v: | JIMD Rep |
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| Hlavní autoři: | , , , , |
| Médium: | Artigo |
| Jazyk: | Inglês |
| Vydáno: |
Springer Berlin Heidelberg
2014
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| Témata: | |
| On-line přístup: | 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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