Publication
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
Giorgia Di Lorenzo, Lena M. Westermann, Timur A. Yorgan, Julian Stürznickel, 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 Velho, Michaela Schweizer, Thomas Renné, Thomas Braulke, Dévora N. Randon, Fernanda Sperb-Ludwig, Louise Lapagesse de Camargo Pinto, Carolina Araujo Moreno, Denise P. Cavalcanti, Michael Amling, Kerstin Kutsche, Dominic Winter, Nicole M. Muschol, Ida V.D. Schwartz, Tim Rolvien, Tatyana Danyukova, Thorsten Schinke, Sandra Pohl
Genetics in Medicine, December 2021, Elsevier
DOI: 10.1038/s41436-021-01285-9