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U-IMD: the first Unified European registry for inherited metabolic diseases.
Opladen T, Gleich F, Kozich V, Scarpa M, Martinelli D, Schaefer F, Jeltsch K, Juliá-Palacios N, García-Cazorla Á, Dionisi-Vici C, Kölker S. Opladen T, et al. Among authors: schaefer f. Orphanet J Rare Dis. 2021 Feb 18;16(1):95. doi: 10.1186/s13023-021-01726-3. Orphanet J Rare Dis. 2021. PMID: 33602304 Free PMC article.
European Reference Networks: challenges and opportunities.
Tumiene B, Graessner H, Mathijssen IM, Pereira AM, Schaefer F, Scarpa M, Blay JY, Dollfus H, Hoogerbrugge N. Tumiene B, et al. Among authors: schaefer f. J Community Genet. 2021 Apr;12(2):217-229. doi: 10.1007/s12687-021-00521-8. Epub 2021 Mar 17. J Community Genet. 2021. PMID: 33733400 Free PMC article.
Rare inherited kidney diseases: challenges, opportunities, and perspectives.
Devuyst O, Knoers NV, Remuzzi G, Schaefer F; Board of the Working Group for Inherited Kidney Diseases of the European Renal Association and European Dialysis and Transplant Association. Devuyst O, et al. Among authors: schaefer f. Lancet. 2014 May 24;383(9931):1844-59. doi: 10.1016/S0140-6736(14)60659-0. Lancet. 2014. PMID: 24856029 Free PMC article. Review.
RD-Connect, NeurOmics and EURenOmics: collaborative European initiative for rare diseases.
Lochmüller H, Badowska DM, Thompson R, Knoers NV, Aartsma-Rus A, Gut I, Wood L, Harmuth T, Durudas A, Graessner H, Schaefer F, Riess O; RD-Connect consortium; NeurOmics consortium; EURenOmics consortium. Lochmüller H, et al. Among authors: schaefer f. Eur J Hum Genet. 2018 Jun;26(6):778-785. doi: 10.1038/s41431-018-0115-5. Epub 2018 Feb 27. Eur J Hum Genet. 2018. PMID: 29487416 Free PMC article.
Impact of global economic disparities on practices and outcomes of chronic peritoneal dialysis in children: insights from the International Pediatric Peritoneal Dialysis Network Registry.
Schaefer F, Borzych-Duzalka D, Azocar M, Munarriz RL, Sever L, Aksu N, Barbosa LS, Galan YS, Xu H, Coccia PA, Szabo A, Wong W, Salim R, Vidal E, Pottoore S, Warady BA; IPPN investigators. Schaefer F, et al. Perit Dial Int. 2012 Jul-Aug;32(4):399-409. doi: 10.3747/pdi.2012.00126. Perit Dial Int. 2012. PMID: 22859840 Free PMC article.
Considerable variations in growth hormone policy and prescription in paediatric end-stage renal disease across European countries-a report from the ESPN/ERA-EDTA registry.
van Huis M, Bonthuis M, Sahpazova E, Mencarelli F, Spasojević B, Reusz G, Caldas-Afonso A, Bjerre A, Baiko S, Vondrak K, Molchanova EA, Kolvek G, Zaikova N, Böhm M, Ariceta G, Jager KJ, Schaefer F, van Stralen KJ, Groothoff JW. van Huis M, et al. Among authors: schaefer f. Nephrol Dial Transplant. 2016 Apr;31(4):609-19. doi: 10.1093/ndt/gfv105. Epub 2015 Apr 28. Nephrol Dial Transplant. 2016. PMID: 25925700
Rare diseases and effective treatments: are we delivering?
Luzzatto L, Hollak CE, Cox TM, Schieppati A, Licht C, Kääriäinen H, Merlini G, Schaefer F, Simoens S, Pani L, Garattini S, Remuzzi G. Luzzatto L, et al. Among authors: schaefer f. Lancet. 2015 Feb 28;385(9970):750-2. doi: 10.1016/S0140-6736(15)60297-5. Lancet. 2015. PMID: 25752159 No abstract available.
800 results