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Mucolipidoses Overview: Past, Present, and Future
Mucolipidosis II and III (ML II/III) are caused by a deficiency of uridine-diphosphate N-acetylglucosamine: lysosomal-enzyme-N-acetylglucosamine-1-phosphotransferase (GlcNAc-1-phosphotransferase, EC2.7.8.17), which tags lysosomal enzymes with a mannose 6-phosphate (M6P) marker for transport to the l...
Autores principales: | Khan, Shaukat A., Tomatsu, Saori C. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7555117/ https://www.ncbi.nlm.nih.gov/pubmed/32957425 http://dx.doi.org/10.3390/ijms21186812 |
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