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  1. Article

    Open Access

    Transition for adolescents with a rare disease: results of a nationwide German project

    The transition process from paediatric/adolescent to adult medical care settings is of utmost importance for the future health of adolescents with chronic diseases and poses even more difficulties in the conte...

    Corinna Grasemann, Jakob Höppner, Peter Burgard in Orphanet Journal of Rare Diseases (2023)

  2. Article

    Open Access

    Topical glucocorticoid application causing iatrogenic Cushing’s syndrome followed by secondary adrenal insufficiency in infants: two case reports

    Iatrogenic Cushing’s syndrome induced by oral and parenteral glucocorticoid administration is a well-known complication. Immediate withdrawal from exogenous steroids can lead to life-threatening adrenal insuff...

    Nicola Matejek, Johannes Hoos, Paul Martin Holterhus in Journal of Medical Case Reports (2022)

  3. Article

    Open Access

    An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee

    Diagnosis, treatment, and care of patients with rare diseases require multidisciplinary cooperation between medical and paramedical specialities and with patients and families. Innovative genetic diagnostics, ...

    Daniela Choukair, Fabian Hauck, Markus Bettendorf in Orphanet Journal of Rare Diseases (2021)

  4. Article

    Inhibition of IGF-I–related intracellular signaling pathways by proinflammatory cytokines in growth plate chondrocytes

    Children with chronic inflammatory diseases suffer from severe growth failure associated with resistance toward the anabolic action of insulin-like growth factor I (IGF-I). We hypothesized that proinflammatory...

    Daniela Choukair, Ulrike Hügel, Anja Sander, Lorenz Uhlmann in Pediatric Research (2014)