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Characterization of the visceral and neuronal phenotype of 4L/PS-NA mice modeling Gaucher disease
Gaucher disease is caused by a deficiency in glucocerebrosidase that can result in non-neuronal as well as neuronal symptoms. Common visceral symptoms are an increased organ size, specifically of the spleen, and glucosylceramide as well as glucosylsphingosine substrate accumulations as a direct resu...
Autores principales: | Schiffer, Victoria, Santiago-Mujika, Estibaliz, Flunkert, Stefanie, Schmidt, Staffan, Farcher, Martina, Loeffler, Tina, Schilcher, Irene, Posch, Maria, Neddens, Joerg, Sun, Ying, Kehr, Jan, Hutter-Paier, Birgit |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Public Library of Science
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6957154/ https://www.ncbi.nlm.nih.gov/pubmed/31929594 http://dx.doi.org/10.1371/journal.pone.0227077 |
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