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Mucolipidosis Type IV: an Update

Mucolipidosis type IV (MLIV) is a neurodevelopmental as well as neurodegenerative disorder with severe psychomotor developmental delay, progressive visual impairment, and achlorydria. It is characterized by the presence of lysosomal inclusions in many cell types in patients. MLIV is an autosomal rec...

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Detalhes bibliográficos
Main Authors: Wakabayashi, Kazuyo, Gustafson, Ann Marie, Sidransky, Ellen, Goldin, Ehud
Formato: Artigo
Idioma:Inglês
Publicado em: 2011
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3205274/
https://ncbi.nlm.nih.gov/pubmed/21763169
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2011.06.006
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