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Health-related quality of life of children with X-linked hypophosphatemia in Germany.
Klein M, Obermaier M, Mutze H, Wilden SM, Rehberg M, Schlingmann KP, Schmidt D, Metzing O, Hübner A, Richter-Unruh A, Kemper MJ, Weitz M, Wühl E, Jorch N, Patzer L, Freiberg C, Heger S, Ziviknjak M, Schnabel D, Haffner D; German Society for Pediatric Nephrology (GPN) and the German Society for Pediatric and Adolescent Endocrinology and Diabetology (DGPAED). Klein M, et al. Among authors: rehberg m. Pediatr Nephrol. 2024 Nov;39(11):3221-3231. doi: 10.1007/s00467-024-06427-0. Epub 2024 Jun 25. Pediatr Nephrol. 2024. PMID: 38914781 Free PMC article.
Interaction between KDELR2 and HSP47 as a Key Determinant in Osteogenesis Imperfecta Caused by Bi-allelic Variants in KDELR2.
van Dijk FS, Semler O, Etich J, Köhler A, Jimenez-Estrada JA, Bravenboer N, Claeys L, Riesebos E, Gegic S, Piersma SR, Jimenez CR, Waisfisz Q, Flores CL, Nevado J, Harsevoort AJ, Janus GJM, Franken AAM, van der Sar AM, Meijers-Heijboer H, Heath KE, Lapunzina P, Nikkels PGJ, Santen GWE, Nüchel J, Plomann M, Wagener R, Rehberg M, Hoyer-Kuhn H, Eekhoff EMW, Pals G, Mörgelin M, Newstead S, Wilson BT, Ruiz-Perez VL, Maugeri A, Netzer C, Zaucke F, Micha D. van Dijk FS, et al. Among authors: rehberg m. Am J Hum Genet. 2020 Nov 5;107(5):989-999. doi: 10.1016/j.ajhg.2020.09.009. Epub 2020 Oct 13. Am J Hum Genet. 2020. PMID: 33053334 Free PMC article.
An exploratory open-label multicentre phase I/II trial evaluating the safety and efficacy of postnatal or prenatal and postnatal administration of allogeneic expanded fetal mesenchymal stem cells for the treatment of severe osteogenesis imperfecta in infants and fetuses: the BOOSTB4 trial protocol.
Sagar RL, Åström E, Chitty LS, Crowe B, David AL, DeVile C, Forsmark A, Franzen V, Hermeren G, Hill M, Johansson M, Lindemans C, Lindgren P, Nijhuis W, Oepkes D, Rehberg M, Sahlin NE, Sakkers R, Semler O, Sundin M, Walther-Jallow L, Verweij EJTJ, Westgren M, Götherström C. Sagar RL, et al. Among authors: rehberg m. BMJ Open. 2024 Jun 4;14(6):e079767. doi: 10.1136/bmjopen-2023-079767. BMJ Open. 2024. PMID: 38834319 Free PMC article.
107 results