Growth charts for patients with Sanfilippo syndrome (Mucopolysaccharidosis type III)
Muschol, Nicole M, Pape, Daniel, Kossow, Kai, Ullrich, Kurt, Arash-Kaps, Laila, Hennermann, Julia B, Stücker, Ralf, Breyer, Sandra R
Published in Orphanet journal of rare diseases (02.05.2019)
Published in Orphanet journal of rare diseases (02.05.2019)
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Journal Article
Hip Morphology in MPS-1H Patients: An MRI-based Study
Breyer, Sandra R, Muschol, Nicole, Schmidt, Mona, Rupprecht, Martin, Babin, Kornelia, Herrmann, Jochen, Stücker, Ralf
Published in Journal of pediatric orthopaedics (01.10.2018)
Published in Journal of pediatric orthopaedics (01.10.2018)
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Journal 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, Giorgia, Westermann, Lena M, Yorgan, Timur A, Stürznickel, Julian, Ludwig, Nataniel F, Ammer, Luise S, Baranowsky, Anke, Ahmadi, Shiva, Pourbarkhordariesfandabadi, Elham, Breyer, Sandra R, Board, Tim N, Foster, Anne, Mercer, Jean, Tylee, Karen, Velho, Renata Voltolini, Schweizer, Michaela, Renné, Thomas, Braulke, Thomas, Randon, Dévora N, Sperb-Ludwig, Fernanda, de Camargo Pinto, Louise Lapagesse, Moreno, Carolina Araujo, Cavalcanti, Denise P, Amling, Michael, Kutsche, Kerstin, Winter, Dominic, Muschol, Nicole M, Schwartz, Ida V D, Rolvien, Tim, Danyukova, Tatyana, Schinke, Thorsten, Pohl, Sandra
Published in Genetics in medicine (01.12.2021)
Published in Genetics in medicine (01.12.2021)
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Journal Article
Hip dysplasia in Hurler syndrome: A retrospective analysis of longitudinal data from neonatal hip screening to long-term follow-up
Quitmann, Christina M., Breyer, Sandra R., Lindschau, Mona, Rudolph, Cornelia, Muschol, Nicole M.
Published in Molecular genetics and metabolism (01.02.2024)
Published in Molecular genetics and metabolism (01.02.2024)
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Journal Article
Disease manifestations in mucopolysaccharidoses and their impact on anaesthesia-related complications: A retrospective analysis of 99 patients
Ammer, Luise S., Muschol, Nicole M., Lang, Annika, Breyer, Sandra R., Ozga, Ann-Kathrin, Petzoldt, Martin, Dohrmann, Thorsten
Published in Molecular genetics and metabolism (01.02.2022)
Published in Molecular genetics and metabolism (01.02.2022)
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Journal Article
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch, Josephine, Rupprecht, Martin, Stuecker, Ralf, Muschol, Nicole, Breyer, Sandra R
Published in Journal of orthopaedic case reports (01.09.2018)
Published in Journal of orthopaedic case reports (01.09.2018)
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Journal Article
Hip Dysplasia in Mucopolysaccharidosis Type IVA (Morquio A Syndrome) Treated by Proximal Femoral Valgization Osteotomy: A Case Report
Berger-Groch, Josephine, Rupprecht, Martin, Stuecker, Ralf, Muschol, Nicole, Breyer, Sandra R
Published in Journal of orthopaedic case reports (01.09.2018)
Published in Journal of orthopaedic case reports (01.09.2018)
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