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Di Lorenzo G, Westermann LM, Yorgan TA, et al. 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. Genet Med. 2021;23(12):2369-2377doi: 10.1038/s41436-021-01285-9.
Di Lorenzo, G., Westermann, L. M., Yorgan, T. A., Stürznickel, J., Ludwig, N. F., Ammer, L. S., Baranowsky, A., Ahmadi, S., Pourbarkhordariesfandabadi, E., Breyer, S. R., Board, T. N., Foster, A., Mercer, J., Tylee, K., Velho, R. V., Schweizer, M., Renné, T., Braulke, T., Randon, D. N., Sperb-Ludwig, F., de Camargo Pinto, L. L., Moreno, C. A., Cavalcanti, D. P., Amling, M., Kutsche, K., Winter, D., Muschol, N. M., Schwartz, I. V. D., Rolvien, T., Danyukova, T., Schinke, T., & Pohl, S. (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 III. Genetics in medicine : official journal of the American College of Medical Genetics, 23(12), 2369-2377. https://doi.org/10.1038/s41436-021-01285-9
Di Lorenzo, Giorgia, et al. "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 : official journal of the American College of Medical Genetics vol. 23,12 (2021): 2369-2377. doi: https://doi.org/10.1038/s41436-021-01285-9
Di Lorenzo G, Westermann LM, Yorgan TA, Stürznickel J, Ludwig NF, Ammer LS, Baranowsky A, Ahmadi S, Pourbarkhordariesfandabadi E, Breyer SR, Board TN, Foster A, Mercer J, Tylee K, Velho RV, Schweizer M, Renné T, Braulke T, Randon DN, Sperb-Ludwig F, de Camargo Pinto LL, Moreno CA, Cavalcanti DP, Amling M, Kutsche K, Winter D, Muschol NM, Schwartz IVD, Rolvien T, Danyukova T, Schinke T, Pohl S. 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. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 02. PMID: 34341521; PMCID: PMC8629757.
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