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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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Detalles Bibliográficos
Publicado en:J Neurochem
Autores principales: Boudewyn, Lauren C., Walkley, Steven U.
Formato: Artigo
Lenguaje:Inglês
Publicado: 2018
Materias:
Acceso en línea: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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