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Drosophila D-idua Reduction Mimics Mucopolysaccharidosis Type I Disease-Related Phenotypes
Deficit of the IDUA (α-L-iduronidase) enzyme causes the lysosomal storage disorder mucopolysaccharidosis type I (MPS I), a rare pediatric neurometabolic disease, due to pathological variants in the IDUA gene and is characterized by the accumulation of the undegraded mucopolysaccharides heparan sulfa...
Autores principales: | De Filippis, Concetta, Napoli, Barbara, Rigon, Laura, Guarato, Giulia, Bauer, Reinhard, Tomanin, Rosella, Orso, Genny |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2021
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8750945/ https://www.ncbi.nlm.nih.gov/pubmed/35011691 http://dx.doi.org/10.3390/cells11010129 |
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