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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...

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Bibliographic Details
Published in:Int J Mol Sci
Main Authors: Khan, Shaukat A., Tomatsu, Saori C.
Format: Artigo
Language:Inglês
Published: MDPI 2020
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7555117/
https://ncbi.nlm.nih.gov/pubmed/32957425
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/ijms21186812
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