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  1. Alanay, Yasemin [Author]; Mohnike, Klaus [Author]; Nilsson, Ola [Author]; Alves, Inês [Author]; AlSayed, Moeenaldeen [Author]; Appelman-Dijkstra, Natasha M. [Author]; Baujat, Genevieve [Author]; Ben-Omran, Tawfeg [Author]; Breyer, Sandra Rafaela [Author]; Cormier-Daire, Valerie [Author]; Gregersen, Pernille Axél [Author]; Guillén-Navarro, Encarna [Author]; Högler, Wolfgang [Author]; Maghnie, Mohamad [Author]; Mukherjee, Swati [Author]; Cohen, Shelda [Author]; Pimenta, Jeanne [Author]; Selicorni, Angelo [Author]; Semler, Jörg Oliver [Author]; Sigaudy, Sabine [Author]; Popkov, Dmitry [Author]; Sabir, Ian [Author]; Noval, Susana [Author]; Sessa, Marco [Author];

    Real-world evidence in achondroplasia : considerations for a standardized data set

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    2023

    Published in: Orphanet journal of rare diseases ; 18(2023), Artikel-ID 166

  2. Ammer, Luise Sophie; Muschol, Nicole Maria; Santer, René; Lang, Annika; Breyer, Sandra Rafaela; Sasu, Phillip Brenya; Petzoldt, Martin; Dohrmann, Thorsten

    Anaesthesia-Relevant Disease Manifestations and Perianaesthetic Complications in Patients with Mucolipidosis—A Retrospective Analysis of 44 Anaesthetic Cases in 12 Patients

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    MDPI AG, 2022

    Published in: Journal of Clinical Medicine, 11 (2022) 13, Seite 3650

  3. Ammer, Luise Sophie; Dohrmann, Thorsten; Muschol, Nicole Maria; Lang, Annika; Breyer, Sandra Rafaela; Ozga, Ann-Kathrin; Petzoldt, Martin

    Disease Manifestations in Mucopolysaccharidoses and Their Impact on Anaesthesia-Related Complications—A Retrospective Analysis of 99 Patients

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    MDPI AG, 2021

    Published in: Journal of Clinical Medicine, 10 (2021) 16, Seite 3518

  4. Ammer, Luise Sophie; Pohl, Sandra; Breyer, Sandra Rafaela; Aries, Charlotte; Denecke, Jonas; Perez, Anna; Petzoldt, Martin; Schrum, Johanna; Müller, Ingo; Muschol, Nicole Maria

    Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

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    Elsevier BV, 2021

    Published in: Molecular Genetics and Metabolism Reports, 26 (2021), Seite 100704

  5. Ammer, Luise Sophie; Oussoren, Esmeralda; Muschol, Nicole Maria; Pohl, Sandra; Rubio-Gozalbo, Maria Estela; Santer, René; Stuecker, Ralf; Vettorazzi, Eik; Breyer, Sandra Rafaela

    Hip Morphology in Mucolipidosis Type II

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    MDPI AG, 2020

    Published in: Journal of Clinical Medicine, 9 (2020) 3, Seite 728

  6. Breyer, Sandra Rafaela; Vettorazzi, Eik; Schmitz, Leonie; Gulati, Amit; von Cossel, Katharina Maria; Spiro, Alexander; Rupprecht, Martin; Stuecker, Ralf; Muschol, Nicole Maria

    Hip pathologies in mucopolysaccharidosis type III

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    Springer Science and Business Media LLC, 2021

    Published in: Journal of Orthopaedic Surgery and Research, 16 (2021) 1