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Molecular & Cellular Proteomics : MCP|May 19, 2018
Lysosomal Proteome and Secretome Analysis Identifies Missorted Enzymes and Their Nondegraded Substrates in Mucolipidosis III Mouse CellsGiorgia Di Lorenzo, Renata Voltolini Velho, Dominic Winter, et al.Genetics in Medicine : Official Journal of the American College of Medical Genetics|August 3, 2021
Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and IIIGiorgia Di Lorenzo, Lena M Westermann, Timur A Yorgan, et al.Pageof 2