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Evaluation of α‐iduronidase in dried blood spots is an accurate tool for mucopolysaccharidosis I diagnosis
Background: Mucopolysaccharidosis type I (MPS I) is caused by a deficiency of the α‐l‐iduronidase (IDUA), which leads to the accumulation of glycosaminoglycans in lysosomes. MPS I patients present a spectrum ranging from a severe to an attenuated phenotype. Once clinical suspicion is present, diagno...
Gardado en:
| Publicado en: | J Clin Lab Anal |
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| Main Authors: | , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado: |
Wiley Subscription Services, Inc., A Wiley Company
2011
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| Assuntos: | |
| Acceso en liña: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6647646/ https://ncbi.nlm.nih.gov/pubmed/21786328 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jcla.20468 |
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