Orphanet Journal of Rare Diseases, Apr 2023 This is a preview of a remote PDF: https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-023-02697-3 Maltseva, Margarita, Schubert-Bast, Susanne, Zöllner, Johann Philipp, Bast, Thomas, Mayer, Thomas, von Spiczak, Sarah, Ruf, Susanne, Trollmann, Regina, Wolff, Markus, Hornemann, Frauke, Klotz, Kerstin A., Jacobs, Julia, Kurlemann, Gerhard, Neubauer, Bernd A., Polster, Tilman, Syrbe, Steffen, Bertsche, Astrid, Bettendorf, Ulrich, Kluger, Gerhard,...