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Current concepts in the neuropathogenesis of mucolipidosis type IV
Mucolipidosis type IV (MLIV) is an autosomal recessive, lysosomal storage disorder causing progressively severe intellectual disability, motor and speech deficits, retinal degeneration often culminating in blindness, and systemic disease causing a shortened lifespan. MLIV results from mutations in t...
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| Publicado no: | J Neurochem |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2018
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6239999/ https://ncbi.nlm.nih.gov/pubmed/29770442 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/jnc.14462 |
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