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Eye movement biomarkers allow for the definition of phenotypes in Gaucher Disease

2020 . Donald, Aimee | Tan, Chong Y. | Chakrapani, Anupam | Hughes, Derralyn A. | Sharma, Reena | Cole, Duncan | Bardins, Stanislav | Gorges, Martin | Jones, Simon A. | Schneider, Erich

Pain drawings as a diagnostic tool for the differentiation between two pain-associated rare diseases (Ehlers-Danlos-Syndrome, Guillain-Barré-Syndrome)

2020 . Wester, Larissa | Dr. Mücke, Martin | Bender, Tim Theodor Albert | Sellin, Julia | Klawonn, Frank | Conrad, Rupert | Szczypien, Natasza

Pediatric hypophosphatasia: lessons learned from a retrospective single-center chart review of 50 children

2020 . Vogt, Marius | Girschick, Hermann | Schweitzer, Tilmann | Benoit, Clemens | Holl-Wieden, Annette | Seefried, Lothar | Jakob, Franz | Hofmann, Christine

Challenging behavior in mucopolysaccharidoses types I–III and day-to-day coping strategies: a cross sectional explorative study

2020 . Hoffmann, Frederik | Hoffmann, Susanne | Kunzmann, Kevin | Ries, Markus

A Germany-wide survey study on the patient journey of patients with hereditary angioedema

2020 . Magerl, Markus | Gothe, Holger | Krupka, Simon | Lachmann, Anja | Ohlmeier, Christoph

The adult phenotype of Schaaf-Yang syndrome

2020 . Marbach, Felix | Elgizouli, Magdeldin | Rech, Megan | Beygo, Jasmin | Erger, Florian | Velmans, Clara | Stumpel, Constance T. R. M. | Stegmann, Alexander P. A. | Beck-Wödl, Stefanie | Gillessen-Kaesbach, Gabriele | Horsthemke, Bernhard | Schaaf, Christian P. | Kuechler, Alma

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