Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

Genetics in Medicine, Published online: 02 August 2021; doi:10.1038/s41436-021-01285-9Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

Source: Genetics in Medicine - August 2, 2021 Category: Genetics & Stem Cells Authors: Giorgia Di Lorenzo Lena M. Westermann Timur A. Yorgan Julian St ürznickel Nataniel F. Ludwig Luise S. Ammer Anke Baranowsky Shiva Ahmadi Elham Pourbarkhordariesfandabadi Sandra R. Breyer Tim N. Board Anne Foster Jean Mercer Karen Tylee Renata Voltolini V Source Type: research