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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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Podrobná bibliografie
Hlavní autoři: Wakabayashi, Kazuyo, Gustafson, Ann Marie, Sidransky, Ellen, Goldin, Ehud
Médium: Artigo
Jazyk:Inglês
Vydáno: 2011
Témata:
On-line přístup: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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