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Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder
The mucolipidoses are a heterogenous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare, is seen predominantly in the Ashkenazi Jewish population, and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacificatio...
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| Auteurs principaux: | , , , |
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| Format: | Artigo |
| Langue: | Inglês |
| Publié: |
2010
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| Sujets: | |
| Accès en ligne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC2824620/ https://ncbi.nlm.nih.gov/pubmed/20159435 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2009.10.002 |
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