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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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Autori principali: Wakabayashi, Kazuyo, Gustafson, Ann Marie, Sidransky, Ellen, Goldin, Ehud
Natura: Artigo
Lingua:Inglês
Pubblicazione: 2011
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Accesso online: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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