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Severe neurometabolic phenotype in npc1(−/−) zebrafish with a C-terminal mutation
Niemann Pick disease type C (NPC) is an autosomal recessive neurodegenerative lysosomal disorder characterized by an accumulation of lipids in different organs. Clinical manifestations can start at any age and include hepatosplenomegaly, intellectual impairment, and cerebellar ataxia. NPC1 is the mo...
| Autores principales: | , , , , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10063808/ https://www.ncbi.nlm.nih.gov/pubmed/37008782 http://dx.doi.org/10.3389/fnmol.2023.1078634 |