Department of Paediatrics and Adolescent Medicine

Further Evidence of Neuroprotective Effects of Recombinant Human Erythropoietin and Growth Hormone in Hypoxic Brain Injury in Neonatal Mice (2022) Klepper S, Jung S, Dittmann L, Geppert CI, Hartmann A, Beier N, Trollmann R Journal article Missense variant c.1460 T > C (p.L487P) enhances protein degradation of ER mannosyltransferase ALG9 in two new ALG9-CDG patients presenting with West syndrome and review of the literature (2022) Himmelreich N, Dimitrov B, Zielonka M, Hullen A, Hoffmann GF, Juenger H, Muller H, et al. Journal article Frequency of Ketoacidosis at Diagnosis of Pediatric Type 1 Diabetes Associated With Socioeconomic Deprivation and Urbanization: Results From the German Multicenter DPV Registry (2022) Auzanneau M, Rosenbauer J, Warncke K, Maier W, Kamrath C, Hofmann T, Wurm M, et al. Journal article Relationship between age at initiation of cysteamine treatment, adherence with therapy, and glomerular kidney function in infantile nephropathic cystinosis (2022) Nießl C, Boulesteix AL, Oh J, Palm K, Schlingmann P, Wygoda S, Haffner D, et al. Journal article Clinical presentation and long-term outcome of patients with KCNJ11/ABCC8 variants: Neonatal diabetes or MODY in the DPV registry from Germany and Austria (2022) Warncke K, Eckert A, Kapellen T, Kummer S, Raile K, Dunstheimer D, Grulich-Henn J, et al. Journal article Effect of nusinersen on motor, respiratory and bulbar function in early-onset spinal muscular atrophy (2022) Pechmann A, Behrens M, Doernbrack K, Tassoni A, Stein S, Vogt S, Zoeller D, et al. Journal article Significant advantages for first line treatment with TNF-alpha inhibitors in pediatric patients with inflammatory bowel disease – Data from the multicenter CEDATA-GPGE registry study (2022) Claßen M, de Laffolie J, Claßen M, Schnell A, Sohrabi K, Hörning A Journal article Short-term safety results from compassionate use of risdiplam in patients with spinal muscular atrophy in Germany (2022) Hahn A, Guenther R, Ludolph A, Schwartz O, Trollmann R, Weydt P, Weiler M, et al. Journal article Functional and clinical analysis of five EDA variants associated with ectodermal dysplasia but with a hard-to-predict significance (2022) Goekdere S, Schneider H, Hehr U, Willen L, Schneider P, Maier-Wohlfart S Journal article Microbiota-Derived Propionate Modulates Megakaryopoiesis and Platelet Function (2022) Dürholz K, Schmid E, Frech M, Azizov V, Otterbein N, Lucas S, Rauh M, et al. Journal article