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Hip Morphology in Mucolipidosis Type II.
Ammer LS, Oussoren E, Muschol NM, Pohl S, Rubio-Gozalbo ME, Santer R, Stuecker R, Vettorazzi E, Breyer SR. Ammer LS, et al. Among authors: breyer sr. J Clin Med. 2020 Mar 8;9(3):728. doi: 10.3390/jcm9030728. J Clin Med. 2020. PMID: 32182687 Free PMC article.
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.
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. Di Lorenzo G, et al. Among authors: breyer sr. Genet Med. 2021 Dec;23(12):2369-2377. doi: 10.1038/s41436-021-01285-9. Epub 2021 Aug 2. Genet Med. 2021. PMID: 34341521 Free PMC article.
Hip pathologies in mucopolysaccharidosis type III.
Breyer SR, Vettorazzi E, Schmitz L, Gulati A, von Cossel KM, Spiro A, Rupprecht M, Stuecker R, Muschol NM. Breyer SR, et al. J Orthop Surg Res. 2021 Mar 19;16(1):201. doi: 10.1186/s13018-021-02340-6. J Orthop Surg Res. 2021. PMID: 33741007 Free PMC article.
Hip Morphology in MPS-1H Patients: An MRI-based Study.
Breyer SR, Muschol N, Schmidt M, Rupprecht M, Babin K, Herrmann J, Stücker R. Breyer SR, et al. J Pediatr Orthop. 2018 Oct;38(9):478-483. doi: 10.1097/BPO.0000000000000858. J Pediatr Orthop. 2018. PMID: 27636911
57 results