@article{UBHD-69217767, author={Adami, Till and Ries, Markus}, title={The scientific chaos phase of the Great Pandemic}, subtitle={an analysis of the first surge of clinical research concerning COVID-19}, year={2024}, pages={S134}, language={eng}, issn={0949-7013}, volume={86}, number={2}, note={BV{\"O}GD, BZ{\"O}G, DG{\"O}G, 26.04.2024, Krisenmanagement – Poster (ohne Postersitzung) 09:15 – 10:00 | Saal Y}, journal={Das Gesundheitswesen}, doi={10.1055/s-0044-1781949}, } @incollection{UBHD-69099891, author={Adami, Till and Ries, Markus}, title={The scientific chaos phase of the Great Pandemic}, subtitle={a longitudinal analysis and systematic review of the first surge of clinical research concerning COVID-19}, year={2023}, pages={1-54}, language={eng}, note={Gesehen am 20.07.2023}, booktitle={medRxiv}, doi={10.1101/2023.07.14.23292667}, } @article{UBHD-69151458, author={Adami, Till and Ries, Markus}, title={The scientific chaos phase of the great pandemic}, subtitle={a longitudinal analysis and systematic review of the first surge of clinical research concerning COVID-19}, year={2023}, pages={1-27}, language={eng}, issn={1932-6203}, volume={18}, note={Gesehen am 11.12.2023}, journal={PLOS ONE}, doi={10.1371/journal.pone.0289193}, } @incollection{UBHD-68388025, author={Beck, Michael and Whybra-Tr{\"u}mpler, Catharina and Gal, Andreas and Ries, Markus}, title={Anderson-Fabry disease in children and adolescents}, year={2001}, pages={251-255}, language={eng}, isbn={978-3-318-00751-0}, note={Gesehen am 08.05.2019}, booktitle={Rare kidney diseases}, editor={Schieppati, Arrigo}, doi={10.1159/000060197}, } @book{UBHD-68559911, author={Beck, Michael and Ries, Markus and Kampmann, Christoph}, title={Morbus Fabry}, subtitle={klinische Manifestation, Diagnostik und Therapie}, publisher={TKT Europe}, address={Wachenroth}, year={2002}, pages={36 S.}, language={ger}, series={Lysosomal storage disease network}, note={Literaturverz. S. 28 - 35}, } @article{UBHD-68388014, author={Benko, William and Ries, Markus}, title={The saccadic and neurological deficits in type 3 Gaucher disease}, year={2011}, pages={12 S.}, language={eng}, issn={1932-6203}, volume={6(2011}, note={Gesehen am 08.05.2019}, journal={PLOS ONE}, doi={10.1371/journal.pone.0022410}, } @article{UBHD-68068210, author={Breil, Thomas and Wenning, Daniel and Teufel-Sch{\"a}fer, Ulrike and Hoffmann, Georg F. and Ries, Markus}, title={An assessment of publication status of pediatric liver transplantation studies}, year={2016}, pages={9 S.}, language={eng}, issn={1932-6203}, volume={11(2016}, note={Gesehen am 23.12.2016}, journal={PLOS ONE}, doi={10.1371/journal.pone.0168251}, url={http://dx.doi.org/10.1371/journal.pone.0168251}, library={UB}, } @article{UBHD-68288689, author={Breil, Thomas and Hoffmann, Georg F. and Ries, Markus}, title={Publication status of completed registered studies in paediatric appendicitis}, subtitle={a cross-sectional analysis}, year={2018}, pages={7 S.}, language={eng}, issn={2044-6055}, volume={8(2018}, note={Gesehen am 25.07.2018}, journal={BMJ open}, doi={10.1136/bmjopen-2018-021684}, url={http://dx.doi.org/10.1136/bmjopen-2018-021684}, library={UB}, } @article{UBHD-68749328, author={Brennenstuhl, Heiko and Will, Manuel and Ries, Elias and Mechler, Konstantin and Garbade, Sven and Ries, Markus}, title={Patterns of extreme temperature-related catastrophic events in Europe including the Russian Federation}, subtitle={a cross-sectional analysis of the Emergency Events Database}, year={2021}, pages={1-8}, language={eng}, issn={2044-6055}, volume={11}, note={Gesehen am 16.06.2021}, journal={BMJ open}, doi={10.1136/bmjopen-2020-046359}, url={https://doi.org/10.1136/bmjopen-2020-046359}, library={UB}, } @incollection{UBHD-68910583, author={Brennenstuhl, Heiko and Will, Manuel and Ries, Elias and Mechler, Konstantin and Garbade, Sven and Ries, Markus}, title={Temperature-related disasters in Europe}, subtitle={a cross-sectional analysis of the emergency events database from a pediatric perspective}, year={2019}, pages={1-29}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/19012633}, } @article{UBHD-69358160, author={Burkart, Sebastian and Spanjaard, Melanie and Kaufmann, Lilian and Hinderhofer, Katrin and Schaaf, Christian P. and Ries, Markus and Hempel, Maja}, title={Phenotypical and genotypical expansion of autosomal-dominant KDM1A-related neurodevelopmental disorder spectrum}, subtitle={a case report}, year={2025}, pages={1-5}, language={eng}, issn={1552-4833}, note={Gesehen am 23.06.2025}, journal={American journal of medical genetics}, doi={10.1002/ajmg.a.64144}, } @incollection{UBHD-69295552, author={Burkart, Sebastian and Ries, Markus and Romero, Verena and Burau, Karin and Schaaf, Christian P. and Hempel, Maja}, title={Unraveling the genomic architecture of supernumerary (iso-) dicentric chromosomes in Dup15q syndrome}, subtitle={Insight from a systematic literature-based study}, year={2025}, pages={1-19}, language={eng}, issn={2693-5015}, note={Gesehen am 29.01.2025}, booktitle={Research Square}, doi={10.21203/rs.3.rs-5833554/v1}, } @article{UBHD-68065206, author={Driedger, Jan Henje and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Thirty years of orphan drug legislation and the development of drugs to treat rare seizure conditions}, subtitle={a cross sectional analysis}, year={2016}, pages={15 S.}, language={eng}, issn={1932-6203}, volume={11(2016}, note={Gesehen am 16.12.2016}, journal={PLOS ONE}, doi={10.1371/journal.pone.0161660}, url={http://dx.doi.org/10.1371/journal.pone.0161660}, library={UB}, } @incollection{UBHD-69343837, author={Forst, Maik von der and Popp, Erik and Sch{\"a}fer, Hanne and Becker-Bikowski, Kirsten and Ries, Markus and K{\"u}llenberg, Janna}, title={Exploring the continental staff system as a framework for the hospital incident command}, subtitle={protocol for a qualitative grounded theory study}, year={2025}, pages={1-14}, language={eng}, note={Gesehen am 12.05.2025}, booktitle={medRxiv}, doi={10.1101/2025.05.01.25326786}, } @article{UBHD-69289613, author={Forst, Maik von der and Dietrich, Maximilian and Schmitt, Felix and Popp, Erik and Ries, Markus}, title={Perennial disaster patterns in Central Europe since 2000 and implications for hospital preparedness planning}, subtitle={a cross-sectional analysis}, year={2025}, pages={1-10}, language={eng}, issn={2045-2322}, volume={15}, number={Artikel-ID 620}, note={Gesehen am 13.01.2024}, journal={Scientific reports}, doi={10.1038/s41598-024-84223-4}, } @incollection{UBHD-69192738, author={Forst, Maik von der and Dietrich, Maximilian and Schmitt, Felix and Popp, Erik and Ries, Markus}, title={Perennial disaster patterns in central Europe since 2000}, subtitle={implications for hospital preparedness planning - a cross sectional analysis}, year={2024}, pages={1-20}, language={eng}, note={Gesehen am 18.03.2024}, booktitle={medRxiv}, doi={10.1101/2024.03.10.24304050}, } @incollection{UBHD-68910579, author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus}, title={FDA orphan drug designations for lysosomal storage disorders}, subtitle={a cross sectional analysis}, year={2020}, pages={1-29}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/2020.01.05.20016568}, } @article{UBHD-68613114, author={Garbade, Sven and Zielonka, Matthias and Mechler, Konstantin and K{\"o}lker, Stefan and Hoffmann, Georg F. and Staufner, Christian and Mengel, Eugen and Ries, Markus}, title={FDA orphan drug designations for lysosomal storage disorders}, subtitle={a cross-sectional analysis}, year={2020}, language={eng}, issn={1932-6203}, volume={15(2020}, note={Gesehen am 02.07.2020}, journal={PLOS ONE}, doi={10.1371/journal.pone.0230898}, } @article{UBHD-68632356, author={Garbade, Sven and Zielonka, Matthias and Komatzsuzaki, Shoko and K{\"o}lker, Stefan and Hoffmann, Georg F. and Hinderhofer, Katrin and Mountford, William K. and Mengel, Eugen and Sláma, Tomáš and Mechler, Konstantin and Ries, Markus}, title={Quantitative retrospective natural history modeling for orphan drug development}, year={2021}, pages={99-109}, language={eng}, issn={1573-2665}, volume={44}, number={1}, note={Gesehen am 28.08.2020}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12304}, url={https://doi.org/10.1002/jimd.12304}, library={UB}, } @article{UBHD-68390453, author={Gupta, Surya N. and Ries, Markus and Kotsopoulos, Steven and Schiffmann, Raphael}, title={The relationship of vascular glycolipid storage to clinical manifestations of Fabry disease}, year={2005}, pages={261-268}, language={eng}, issn={1536-5964}, volume={84}, number={5}, note={Gesehen am 16.05.2019}, journal={Medicine}, doi={10.1097/01.md.0000178976.62537.6b}, } @article{UBHD-68388479, author={Gupta, Surya N. and Ries, Markus}, title={Skin-impedance in Fabry disease}, subtitle={a prospective, controlled, non-randomized clinical study}, year={2008}, pages={7 S.}, language={eng}, issn={1471-2377}, volume={8(2008}, note={Gesehen am 09.05.2019}, journal={BMC neurology}, doi={10.1186/1471-2377-8-41}, } @article{UBHD-68263898, author={Hinderhofer, Katrin and Hoffmann, Georg F. and Lampert, Anette and Ries, Markus}, title={Critical appraisal of genotype assessment in molybdenum cofactor deficiency}, year={2017}, pages={801-811}, language={eng}, issn={1573-2665}, volume={40}, number={6}, note={Published online: 12 September 2017 ; Gesehen am 21.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-017-0077-8}, } @article{UBHD-68657430, author={Hoffmann, Frederik and Hoffmann, Susanne and Kunzmann, Kevin and Ries, Markus}, title={Challenging behavior in mucopolysaccharidoses types I-III and day-to-day coping strategies}, subtitle={a cross sectional explorative study}, year={2020}, language={eng}, issn={1750-1172}, volume={15(2020) Artikel-Nummer 275}, number={14 Seiten}, note={Gesehen am 04.11.2020}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-020-01548-9}, url={https://doi.org/10.1186/s13023-020-01548-9}, library={UB}, } @article{UBHD-68740480, author={Hoffmann, Frederik and Ries, Markus}, title={Response to: Evaluating strategies to manage and endure challenging behaviors in mucopolysaccharidoses}, year={2021}, pages={3-5}, language={eng}, issn={1750-1172}, volume={16}, number={Artikel-ID 165}, note={Gesehen am 25.05.2021}, journal={Orphanet journal of rare diseases}, } @article{UBHD-68740523, author={Itai, Toshiyuki and Hamanaka, Kohei and Sasaki, Kazunori and Wagner, Matias and Kotzaeridou, Urania and Br{\"o}sse, Ines and Ries, Markus and Kobayashi, Yu and Tohyama, Jun and Kato, Mitsuhiro and Ong, Winnie P. and Chew, Hui B. and Rethanavelu, Kavitha and Ranza, Emmanuelle and Blanc, Xavier and Uchiyama, Yuri and Tsuchida, Naomi and Fujita, Atsushi and Azuma, Yoshiteru and Koshimizu, Eriko and Mizuguchi, Takeshi and Takata, Atsushi and Miyake, Noriko and Takahashi, Hidehisa and Miyagi, Etsuko and Tsurusaki, Yoshinori and Doi, Hiroshi and Taguri, Masataka and Antonarakis, Stylianos E. and Nakashima, Mitsuko and Saitsu, Hirotomo and Miyatake, Satoko and Matsumoto, Naomichi}, title={De novo variants in CELF2 that disrupt the nuclear localization signal cause developmental and epileptic encephalopathy}, year={2021}, pages={66-76}, language={eng}, issn={1098-1004}, volume={42}, number={1 vom: Jan.}, note={First published: 01 November 2020 ; Gesehen am 25.05.2021}, journal={Human mutation}, doi={10.1002/humu.24130}, } @incollection{UBHD-68910575, author={Johann, Pascal-David and Lenz, Dominic and Ries, Markus}, title={“The drug development pipeline for glioblastoma}, subtitle={a cross sectional assessment of the FDA Orphan Drug Product designation database”}, year={2021}, pages={1-21}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/2021.01.01.21249120}, } @article{UBHD-68757628, author={Johann, Pascal-David and Lenz, Dominic and Ries, Markus}, title={The drug development pipeline for glioblastoma}, subtitle={a cross sectional assessment of the FDA Orphan Drug Product designation database}, year={2021}, pages={1-14}, language={eng}, issn={1932-6203}, volume={16}, note={Gesehen am 08.07.2021}, journal={PLOS ONE}, doi={10.1371/journal.pone.0252924}, } @article{UBHD-67869676, author={K{\"a}stner, B{\"a}rbel and Lutz, Nadine and B{\"u}rger, Friederike and Luntz, Steffen P. and Hinderhofer, Katrin and Bendszus, Martin and Hoffmann, Georg F. and Ries, Markus}, title={Clinical research in vulnerable populations}, subtitle={variability and focus of institutional review boards’ responses}, year={2015}, pages={8 S.}, language={eng}, issn={1932-6203}, volume={10(2015}, note={Gesehen am 08.09.2015}, journal={PLOS ONE}, doi={10.1371/journal.pone.0135997}, url={http://dx.doi.org/10.1371/journal.pone.0135997}, library={UB}, } @article{UBHD-69217768, author={Kalm, Tassja and Schob, Claudia and V{\"o}ller, Hanna and Gardeitchik, Thatjana and Gilissen, Christian and Pfundt, Rolph and Kl{\"o}ckner, Chiara and Platzer, Konrad and Klabunde-Cherwon, Annick and Ries, Markus and Syrbe, Steffen and Beccaria, Francesca and Madia, Francesca and Scala, Marcello and Zara, Federico and Hofstede, Floris and Simon, Marleen E. H. and Jaarsveld, Richard H. van and Oegema, Renske and Gassen, Koen L. I. van and Holwerda, Sjoerd J. B. and Barakat, Tahsin Stefan and Bouman, Arjan and Slegtenhorst, Marjon van and Álvarez, Sara and Fernández-Jaén, Alberto and Porta, Javier and Accogli, Andrea and Mancardi, Margherita Maria and Striano, Pasquale and Iacomino, Michele and Chae, Jong-Hee and Jang, SeSong and Kim, Soo Y. and Chitayat, David and Mercimek-Andrews, Saadet and Depienne, Christel and Kampmeier, Antje and Kuechler, Alma and Surowy, Harald and Bertini, Enrico Silvio and Radio, Francesca Clementina and Mancini, Cecilia and Pizzi, Simone and Tartaglia, Marco and Gauthier, Lucas and Genevieve, David and Tharreau, Mylène and Azoulay, Noy and Zaks-Hoffer, Gal and Gilad, Nesia K. and Orenstein, Naama and Bernard, Geneviève and Thiffault, Isabelle and Denecke, Jonas and Herget, Theresia and Kort{\"u}m, Fanny and Kubisch, Christian and B{\"a}hring, Robert and Kindler, Stefan}, title={Etiological involvement of KCND1 variants in an X-linked neurodevelopmental disorder with variable expressivity}, year={2024}, pages={1206-1221}, language={eng}, issn={1537-6605}, volume={111}, number={6 vom: Juni}, note={Gesehen am 27.05.2024}, journal={The American journal of human genetics}, doi={10.1016/j.ajhg.2024.04.019}, } @article{UBHD-68390474, author={Kampmann, Christoph and Baehner, Frank and Ries, Markus and Beck, Michael}, title={Cardiac involvement in Anderson-Fabry disease}, year={2002}, pages={S147-S149}, language={eng}, issn={1533-3450}, volume={13}, number={suppl 2}, note={Gesehen am 16.05.2019}, journal={Journal of the American Society of Nephrology}, doi={10.1097/01.ASN.0000015238.98011.AF}, } @article{UBHD-68390473, author={Kampmann, Christoph and Baehner, Frank and Whybra-Tr{\"u}mpler, Catharina and Martin, Claudia and Wiethoff, Christiane Maria and Ries, Markus and Gal, Andreas and Beck, Michael}, title={Cardiac manifestations of Anderson-Fabry disease in heterozygous females}, year={2002}, pages={1668-1674}, language={eng}, issn={1558-3597}, volume={40}, number={9}, note={Gesehen am 16.05.2019}, journal={Journal of the American College of Cardiology}, doi={10.1016/S0735-1097(02)02380-X}, } @article{UBHD-68390109, author={Kaneski, Christine R. and Moore, David F. and Ries, Markus and Zirzow, G. C. and Schiffmann, Raphael}, title={Myeloperoxidase predicts risk of vasculopathic events in hemizgygous males with Fabry disease}, year={2006}, pages={2045-2047}, language={eng}, issn={1526-632X}, volume={67}, number={11}, note={Gesehen am 15.05.2019}, journal={Neurology}, doi={10.1212/01.wnl.0000247278.88077.09}, } @article{UBHD-69253547, author={Katzenschlager, Stephan and Mohr, Stefan and Kaltschmidt, Nikolai and Peterstorfer, Franziska and Weilbacher, Frank and G{\"u}nther, Patrick and Ries, Markus and Weigand, Markus A. and Popp, Erik}, title={Laryngeal mask vs. laryngeal tube trial in paediatric patients (LaMaTuPe)}, subtitle={a single-blinded, open-label, randomised-controlled trial}, year={2024}, pages={1-8}, language={eng}, issn={1473-5695}, note={Gesehen am 16.09.2024}, journal={European journal of emergency medicine}, doi={10.1097/MEJ.0000000000001178}, } @book{UBHD-69253629, author={Katzenschlager, Stephan and Mohr, Stefan and Kaltschmidt, Nikolai and Peterstorfer, Franziska and Weilbacher, Frank and G{\"u}nther, Patrick and Ries, Markus and Weigand, Markus A. and Popp, Erik}, title={Laryngeal mask vs. laryngeal tube trial in pediatric patients (LaMaTuPe)}, subtitle={a single-blinded, open-label, randomized controlled trial [data]}, publisher={Universit{\"a}t}, address={Heidelberg}, year={2024}, pages={1 Online-Ressource (1 File)}, language={eng}, note={Gesehen am 16.09.2024}, doi={10.11588/data/J7ZITW}, url={https://doi.org/10.11588/data/J7ZITW}, library={UB}, } @article{UBHD-68381176, author={Komatsuzaki, Shoko and Zielonka, Matthias and Mountford, William K. and K{\"o}lker, Stefan and Hoffmann, Georg F. and Garbade, Sven and Ries, Markus}, title={Clinical characteristics of 248 patients with Krabbe disease}, subtitle={quantitative natural history modeling based on published cases}, year={2019}, pages={2208-2215}, language={eng}, issn={1530-0366}, volume={21}, number={10}, note={Gesehen am 17.04.2019}, journal={Genetics in medicine}, doi={10.1038/s41436-019-0480-7}, } @article{UBHD-68388001, author={Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Ten years after the international committee of medical journal editors’ clinical trial registration initiative, one quarter of phase 3 pediatric epilepsy clinical trials still remain unpublished}, subtitle={a cross sectional analysis}, year={2016}, pages={12 S.}, language={eng}, issn={1932-6203}, volume={11(2016}, note={Gesehen am 08.05.2019}, journal={PLOS ONE}, doi={10.1371/journal.pone.0144973}, } @article{UBHD-68870942, author={Lehmann, Ronny and Ries, Markus}, title={Spectrum of clinical research in juvenile idiopathic arthritis}, subtitle={a cross-sectional analysis of registered studies in clinicaltrials.gov and clinicaltrialsregister.eu}, year={2021}, pages={1-13}, language={eng}, issn={2227-9059}, volume={9}, note={Gesehen am 26.01.2022}, journal={Biomedicines}, doi={10.3390/biomedicines9121860}, } @book{UBHD-67987524, author={Lutz, Thomas and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Novel treatments for rare rheumatologic disorders}, subtitle={analysis of the impact of 30 years of the US orphan drug act}, publisher={BioMed Central}, address={London}, year={2016}, pages={1 Online-Ressource (12 Seiten)}, language={eng}, note={Wissenschaftlicher Aufsatz aus:Orphanet Journal of Rare Diseases, 11 (2016), Nr. 60. pp. 1-12. ISSN 1750-1172}, url={https://nbn-resolving.org/urn:nbn:de:bsz:16-heidok-207031}, library={UB}, } @article{UBHD-68387985, author={Lutz, Thomas and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Novel treatments for rare rheumatologic disorders}, subtitle={analysis of the impact of 30 years of the US orphan drug act}, year={2016}, pages={1-8}, language={eng}, issn={1750-1172}, volume={11}, number={Artikel-ID 60}, note={Gesehen am 08.05.2019}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-016-0443-x}, } @incollection{UBHD-68390121, author={Maier, Esther M. and Schatz, Stephanie Barbara and Whybra-Tr{\"u}mpler, Catharina and Ries, Markus and Gal, Andreas and Beck, Michael and Roscher, Adelbert A. and Muntau, Ania}, title={Disease manifestations and X inactivation in heterozygous females with Fabry disease}, year={2006}, pages={30-38}, language={eng}, booktitle={Lysosomal diseases: natural course, pathology and therapy}, } @article{UBHD-68306130, author={Mechler, Konstantin and Hoffmann, Georg F. and Dittmann, Ralf and Ries, Markus}, title={Defining the hidden evidence in autism research}, subtitle={forty per cent of rigorously designed clinical trials remain unpublished$da cross-sectional analysis}, year={2017}, pages={7 S.}, language={eng}, issn={1557-0657}, volume={26 (2017}, note={First published: 09 November 2016 ; Gesehen am 19.09.2018}, journal={International journal of methods in psychiatric research}, doi={10.1002/mpr.1546}, } @article{UBHD-68559315, author={Mechler, Konstantin and Rausch, Juliane and Mountford, William K. and Ries, Markus}, title={Disease awareness or subtle product placement?}, subtitle={Orphan diseases featured in the television series “House, M.D.” - a cross-sectional analysis}, year={2020}, language={eng}, issn={1472-6939}, volume={21(2020) Artikel-Nummer 20}, number={8 Seiten}, note={Gesehen am 30.03.2020}, journal={BMC medical ethics}, doi={10.1186/s12910-020-0463-x}, url={https://doi.org/10.1186/s12910-020-0463-x}, library={UB}, } @article{UBHD-67870658, author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus}, title={Pressure for drug development in lysosomal storage disorders}, subtitle={a quantitative analysis thirty years beyond the US orphan drug act}, year={2015}, language={eng}, issn={1750-1172}, volume={10(2015) Artikel-Nr. 46}, number={9 S.}, note={Gesehen am 10.09.2015}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-015-0262-5}, url={http://dx.doi.org/10.1186/s13023-015-0262-5}, library={UB}, } @book{UBHD-67930053, author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus}, title={Pressure for drug development in lysosomal storage disorders}, subtitle={a quantitative analysis thirty years beyond the US orphan drug act}, publisher={BioMed Central}, address={London}, year={2015}, pages={1 Online-Ressource (9 Seiten)}, language={eng}, note={Aus: Orphanet Journal of Rare Diseases, 10 (2015), Nr. 46. pp. 1-9. ISSN 1750-1172}, url={http://www.ub.uni-heidelberg.de/archiv/19407}, library={UB}, } @article{UBHD-68013003, author={Mechler, Konstantin and Hoffmann, Georg F. and Ries, Markus}, title={Ultra-orphan diseases}, subtitle={a quantitative analysis of the natural history of molybdenum cofactor deficiency}, year={2015}, pages={965-970}, language={eng}, issn={1530-0366}, volume={17}, number={12}, note={Gesehen am 01.08.2016}, journal={Genetics in medicine}, doi={10.1038/gim.2015.12}, } @article{UBHD-68388021, author={Mehta, Atul B. and Ries, Markus}, title={Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease}, subtitle={an analysis of registry data}, year={2009}, pages={1986-1996}, language={eng}, issn={1474-547X}, volume={374}, number={9706}, note={Gesehen am 08.05.2019}, journal={The lancet}, doi={10.1016/S0140-6736(09)61493-8}, } @article{UBHD-68389811, author={Mehta, Atul B. and Beck, Michael and Elliott, P. and Giugliani, R. and Linhart, A. and Sunder-Plassmann, Gere and Schiffmann, Raphael and Barbey, F. and Ries, Markus and Gal, Andreas}, title={Enzyme replacement therapy with agalsidase alfa in patients with Fabry's disease}, subtitle={an analysis of registry data}, year={2009}, pages={1986-1996}, language={eng}, issn={0140-6736}, volume={374}, number={9706 vom: 12. Dez.}, journal={The lancet}, } @article{UBHD-68390468, author={Mehta, Atul B. and Ricci, R. and Widmer, U. and Dehout, F. and Lorenzo, A. Garcia de and Kampmann, Christoph and Linhart, A. and Sunder-Plassmann, Gere and Ries, Markus and Beck, Michael}, title={Fabry disease defined}, subtitle={baseline clinical manifestations of 366 patients in the Fabry Outcome Survey}, year={2004}, pages={236-242}, language={eng}, issn={1365-2362}, volume={34}, number={3}, note={Gesehen am 16.05.2019}, journal={European journal of clinical investigation}, doi={10.1111/j.1365-2362.2004.01309.x}, } @article{UBHD-68360078, author={Meyburg, Jochen and Ries, Markus and Zielonka, Matthias and Koch, Karin and Sander, Anja and Haken, Rebecca von and Reuner, Gitta}, title={Cognitive and behavioral consequences of pediatric delirium}, subtitle={a pilot study}, year={2018}, pages={e531-e537}, language={eng}, issn={1947-3893}, volume={19}, number={10}, note={Gesehen am 19.02.2019}, journal={Pediatric critical care medicine}, doi={10.1097/PCC.0000000000001686}, } @article{UBHD-68629832, author={Meyburg, Jochen and Ries, Markus}, title={Decision-making in acute viral bronchiolitis}, subtitle={a universal guideline and a publication gap}, year={2020}, pages={9 S.}, language={eng}, issn={1932-6203}, volume={15(2020}, note={Gesehen am 21.08.2020}, journal={PLOS ONE}, doi={10.1371/journal.pone.0237801}, } @incollection{UBHD-68910577, author={Meyburg, Jochen and Ries, Markus}, title={Decision-making in acute viral bronchiolitis}, subtitle={a universal guideline and a publication gap}, year={2020}, pages={1-17}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/2020.05.18.20105320}, } @article{UBHD-68662707, author={Meyburg, Jochen and Ries, Markus}, title={Publication bias in pediatric emergence delirium}, subtitle={a cross-sectional analysis of ClinicalTrials.gov and ClinicalTrialsRegister.eu}, year={2020}, pages={5 S.}, language={eng}, issn={2044-6055}, volume={10(2020}, note={Gesehen am 19.11.2020}, journal={BMJ open}, doi={10.1136/bmjopen-2020-037346}, } @incollection{UBHD-68910578, author={Meyburg, Jochen and Ries, Markus}, title={Unpublished clinical studies in pediatric emergence delirium}, subtitle={a cross sectional analysis}, year={2020}, pages={1-22}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/2020.01.24.20018663}, } @article{UBHD-68374236, author={Modafferi, Sergio and Ries, Markus and Schmitt, Claus P. and Nawroth, Peter Paul and Kopf, Stefan and Peters, Verena}, title={Clinical trials on diabetic nephropathy}, subtitle={a cross-sectional analysis}, year={2019}, pages={229-243}, language={eng}, issn={1869-6961}, volume={10}, number={1}, note={Gesehen am 29.03.2019}, journal={Diabetes therapy}, doi={10.1007/s13300-018-0551-9}, } @article{UBHD-68388481, author={Moore, David F. and Ries, Markus}, title={Apoptotic abnormalities in differential gene expression in peripheral blood mononuclear cells from children with Fabry disease}, year={2008}, pages={48-52}, language={eng}, issn={1651-2227}, volume={97}, number={s457}, note={Gesehen am 09.05.2019}, journal={Acta paediatrica}, doi={10.1111/j.1651-2227.2008.00654.x}, } @article{UBHD-68390106, author={Moore, David F. and Ries, Markus and Forget, Evelyn L. and Schiffmann, Raphael}, title={Enzyme replacement therapy in orphan and ultra-orphan diseases}, year={2007}, pages={201-208}, language={eng}, issn={1179-2027}, volume={25}, number={3}, note={First online: 22 September 2012 ; Gesehen am 15.05.2019}, journal={PharmacoEconomics}, doi={10.2165/00019053-200725030-00003}, } @article{UBHD-68390103, author={Moore, David F. and Krokhin, Oleg V. and Beavis, Ronald C. and Ries, Markus and Robinson, Chevalia and Goldin, Ehud and Brady, Roscoe O. and Wilkins, John A. and Schiffmann, Raphael}, title={Proteomics of specific treatment-related alterations in Fabry disease}, subtitle={a strategy to identify biological abnormalities}, year={2007}, pages={2873-2878}, language={eng}, issn={1091-6490}, volume={104}, number={8}, note={Gesehen am 15.05.2019}, journal={Proceedings of the National Academy of Sciences of the United States of America}, doi={10.1073/pnas.0611315104}, } @article{UBHD-68337463, author={Patry, Christian and Kranig, Simon A. and Rafat, Neysan and Schaible, Thomas and T{\"o}nshoff, Burkhard and Hoffmann, Georg F. and Ries, Markus}, title={Cross-sectional analysis on publication status and age representation of clinical studies addressing mechanical ventilation and ventilator-induced lung injury in infants and children}, year={2018}, pages={11 S.}, language={eng}, issn={2044-6055}, volume={8}, note={Gesehen am 07.12.2018}, journal={BMJ open}, doi={10.1136/bmjopen-2018-023524}, url={http://dx.doi.org/10.1136/bmjopen-2018-023524}, library={UB}, } @article{UBHD-68910557, author={Patry, Christian and Fichtner, Alexander and H{\"o}cker, Britta and Ries, Markus and Schmitt, Claus P. and T{\"o}nshoff, Burkhard}, title={Missing trial results}, subtitle={analysis of the current publication rate of studies in pediatric dialysis from 2003 to 2020}, year={2022}, pages={10 S.}, language={eng}, issn={1432-198X}, volume={(2022) online ahead of print}, number={10 Seiten}, note={Gesehen am 25.04.2022}, journal={Pediatric nephrology}, doi={10.1007/s00467-022-05553-x}, url={https://doi.org/10.1007/s00467-022-05553-x}, library={UB}, } @article{UBHD-68892538, author={Patry, Christian and Cordts, Stephanie E. and Baumann, Lukas and H{\"o}cker, Britta and Fichtner, Alexander and Ries, Markus and T{\"o}nshoff, Burkhard}, title={Publication rate and research topics of studies in pediatric kidney transplantation}, year={2022}, pages={1-11}, language={eng}, issn={1399-3046}, number={Artikel-ID e14262}, note={Gesehen am 08.03.2022}, journal={Pediatric transplantation}, doi={10.1111/petr.14262}, url={https://doi.org/10.1111/petr.14262}, library={UB}, } @article{UBHD-69116366, author={Pfeffer, Tilman and Wen, Dan and Stefanidis, Konstantinos and Peters, Verena and Ries, Markus}, title={A cross-sectional analysis of registered studies on the promising dipeptide carnosine}, year={2023}, pages={1-7}, language={eng}, issn={1573-3904}, volume={29}, note={Gesehen am 28.08.2023}, journal={International journal of peptide research and therapeutics}, doi={10.1007/s10989-023-10553-y}, url={https://doi.org/10.1007/s10989-023-10553-y}, library={UB}, } @article{UBHD-67898891, author={Pfeil, Johannes and Tabatabai, Julia and Sander, Anja and Ries, Markus and Grulich-Henn, J{\"u}rgen and Schnitzler, Paul}, title={Screening for respiratory syncytial virus and isolation strategies in children hospitalized with acute respiratory tract infection}, year={2014}, language={eng}, issn={1536-5964}, volume={93(2014}, note={Gesehen am 06.11.2015}, journal={Medicine}, doi={10.1097/MD.0000000000000144}, } @incollection{UBHD-68390476, author={Ries, Markus and Wendrich, Kristine and Whybra-Tr{\"u}mpler, Catharina and Kampmann, Christoph and Gal, Andreas and Beck, Michael}, title={Angiokeratoma and pain, but not Fabry's disease}, subtitle={considerations for differential diagnosis}, year={2001}, pages={256-259}, language={eng}, isbn={978-3-318-00751-0}, note={Gesehen am 16.05.2019}, booktitle={Rare kidney diseases}, editor={Schieppati, Arrigo}, doi={10.1159/000060198}, } @book{UBHD-68381005, author={Ries, Markus}, title={Biochemical markers of lipid storage and vasculopathy in Fabry disease}, year={2008}, pages={XII, 161 S.}, language={eng}, school={Bonn, Univ., Diss., 2008}, } @article{UBHD-68882423, author={Ries, Markus}, title={The COVID-19 infodemic}, subtitle={mechanism, impact, and counter-measures : a review of reviews}, year={2022}, pages={1-13}, language={eng}, issn={2071-1050}, volume={14}, note={Gesehen am 24.02.2022}, journal={Sustainability}, doi={10.3390/su14052605}, url={https://doi.org/10.3390/su14052605}, library={UB}, } @article{UBHD-68390112, author={Ries, Markus and Schaefer, Ellen and L{\"u}hrs, Till and Mani, Latha and Kuhn, Jana and Vanier, Marie T. and Krummenauer, Frank and Gal, Andreas and Beck, Michael and Mengel, Eugen}, title={Critical assessment of chitotriosidase analysis in the rational laboratory diagnosis of children with Gaucher disease and Niemann-Pick disease type A/B and C}, year={2006}, pages={647-652}, language={eng}, issn={1573-2665}, volume={29}, number={5}, note={Gesehen am 15.05.2019}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-006-0363-3}, } @article{UBHD-68400588, author={Ries, Markus and Zielonka, Matthias and Ries, Noah and Breil, Thomas and Garbade, Sven and Mechler, Konstantin}, title={Disasters in Germany and France}, subtitle={an analysis of the emergency events database from a pediatric perspective}, year={2019}, pages={958-965}, language={eng}, issn={1938-744X}, volume={13}, number={5-6}, note={Gesehen am 20.01.2020}, journal={Disaster medicine and public health preparedness}, doi={10.1017/dmp.2019.24}, } @article{UBHD-68390470, author={Ries, Markus and Ramaswami, Uma and Parini, Rossella and Lindblad, Bengt and Whybra-Tr{\"u}mpler, Catharina and Willers, Ingrid and Gal, Andreas and Beck, Michael}, title={The early clinical phenotype of Fabry disease}, subtitle={a study on 35 European children and adolescents}, year={2003}, pages={767-772}, language={eng}, issn={1432-1076}, volume={162}, number={11}, note={Gesehen am 16.05.2019}, journal={European journal of pediatrics}, doi={10.1007/s00431-003-1299-3}, } @book{UBHD-67820161, author={Ries, Markus}, title={Die Entwicklung der individualisierten Enzymersatztherapie bei Morbus Fabry}, year={2014}, pages={Getr. Z{\"a}hlung}, language={ger}, note={Enth. Sonderabdr. - Beitr. in engl. Sprache.}, school={Heidelberg, Univ., Habil.-Schr., 2014}, library={UB [Signatur: 2015 U 440]}, } @article{UBHD-68264364, author={Ries, Markus}, title={Enzyme replacement therapy and beyond}, subtitle={in memoriam Roscoe O. Brady, M.D. (1923-2016)}, year={2017}, pages={343-356}, language={eng}, issn={1573-2665}, volume={40}, number={3}, note={First online: 17 March 2017 ; Gesehen am 22.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-017-0032-8}, } @article{UBHD-68390113, author={Ries, Markus and Clarke, Joe T. R. and Whybra-Tr{\"u}mpler, Catharina and Timmons, Margaret and Robinson, Chevalia and Schlaggar, Bradley L. and Pastores, Gregory and Lien, Y. Howard and Kampmann, Christoph and Brady, Roscoe Owen and Beck, Michael and Schiffmann, Raphael}, title={Enzyme-replacement therapy with agalsidase alfa in children with Fabry disease}, year={2006}, pages={924-932}, language={eng}, issn={1098-4275}, volume={118}, number={3}, note={Gesehen am 15.05.2019}, journal={Pediatrics}, doi={10.1542/peds.2005-2895}, } @article{UBHD-68388482, author={Ries, Markus}, title={Enzyme replacement in Fabry disease}, subtitle={pharmacokinetics and pharmacodynamics of agalsidase alfa in children and adolescents}, year={2007}, pages={1222-1230}, language={eng}, issn={1552-4604}, volume={47}, number={10}, note={First published: 07 March 2013 ; Gesehen am 09.05.2019}, journal={Journal of clinical pharmacology}, doi={10.1177/0091270007305299}, } @article{UBHD-68390455, author={Ries, Markus and Schiffmann, Raphael}, title={Fabry Disease}, subtitle={angiokeratoma, biomarker, and the effect of enzyme replacement therapy on kidney function}, year={2005}, pages={904-906}, language={eng}, issn={1538-3652}, volume={141}, number={7}, note={Gesehen am 16.05.2019}, journal={Archives of dermatology}, doi={10.1001/archderm.141.7.904-b}, } @incollection{UBHD-68390451, author={Ries, Markus and Gal, Andreas}, title={Genotype-phenotype correlation in Fabry disease}, year={2006}, pages={?}, language={eng}, note={Gesehen am 16.05.2019}, booktitle={Fabry disease}, } @article{UBHD-68965258, author={Ries, Markus}, title={Global key concepts of civil-military cooperation for disaster management in the COVID-19 pandemic}, subtitle={a qualitative phenomenological scoping review}, year={2022}, pages={1-18}, language={eng}, issn={2296-2565}, volume={10}, number={Artikel-ID 975667}, note={Gesehen am 19.09.2022}, journal={Frontiers in Public Health}, doi={10.3389/fpubh.2022.975667}, url={https://doi.org/10.3389/fpubh.2022.975667}, library={UB}, } @incollection{UBHD-68935716, author={Ries, Markus}, title={Global key concepts of civil-military cooperation for disaster management in the COVID-19 pandemic}, subtitle={a qualitative phenomenological scoping review}, edition={Version 1}, year={2022}, pages={1-23}, language={eng}, issn={2693-5015}, note={Gesehen am 29.06.2022}, booktitle={Research Square}, doi={10.21203/rs.3.rs-1785302/v1}, } @article{UBHD-68613112, author={Ries, Markus and Mechler, Konstantin and Smith, Donna L. and Herfort, Benjamin and Visintini, Johannes and Veiga Santana, Amon and Zipf, Alexander and Lautenbach, Sven}, title={Intuitive global insight into COVID-19 clinical research activities}, subtitle={the “COVID-19 map of hope”}, year={2020}, pages={826-827}, language={eng}, issn={1552-4604}, volume={60}, number={7}, note={Gesehen am 02.07.2020}, journal={Journal of clinical pharmacology}, doi={10.1002/jcph.1643}, } @incollection{UBHD-69217771, author={Ries, Markus and Welker, Andreas and K{\"u}hn, Anne and Schwertz, Rainer and Otto, Benjamin and Moraldo, Laura and Dentz, Udo and Arends, Albertus and Welk, Eckhard and Wendorff, Jean-Jacques and Koller, Hans and Kuss, Doreen and Schulze, Christoph}, title={Katastrophenbew{\"a}ltigung in der VUCA-Welt}, subtitle={Lehren aus der regionalen notfallm{\"a}ßigen Schutzimpfung gegen SARS-CoV-2 in Heidelberg und weltweite Schl{\"u}sselkonzepte der zivil-milit{\"a}rischen Zusammenarbeit im Rahmen der COVID-19-Pandemie}, year={2023}, pages={207-209}, language={ger}, isbn={978-3-949117-25-1}, journal={Forschung f{\"u}r den Bev{\"o}lkerungsschutz ; Kongressband 1}, } @article{UBHD-69217763, author={Ries, Markus and Koller, Hans}, title={Lessons-learned aus der Pandemie zur besseren Vorbereitung auf zuk{\"u}nftige Katastrophen}, year={2024}, pages={S148-S149}, language={ger}, issn={0949-7013}, volume={86}, number={2}, note={BV{\"O}GD, BZ{\"O}G, DG{\"O}G, 26.04.2024, Krisenmanagement - Block 3 Preparedness II und Stabsarbeit 15:15 – 16:45 | Saal X.8}, journal={Das Gesundheitswesen}, doi={10.1055/s-0044-1781979}, } @article{UBHD-68390104, author={Ries, Markus and Kim, H. J. and Zalewski, C. K. and Mastroianni, M. A. and Moore, D. F. and Brady, R. O. and Dambrosia, J. M. and Schiffmann, R. and Brewer, C. C.}, title={Neuropathic and cerebrovascular correlates of hearing loss in Fabry disease}, year={2007}, pages={143-150}, language={eng}, issn={1460-2156}, volume={130}, number={Pt 1}, note={Published: 14 November 2006 ; Gesehen am 15.05.2019}, journal={Brain}, doi={10.1093/brain/awl310}, } @article{UBHD-68982954, author={Ries, Markus and Mengel, Eugen}, title={Obituary for Professor Michael Beck (1947-2022)}, year={2023}, pages={154}, language={eng}, issn={1573-2665}, volume={46}, number={1 vom: Jan.}, note={Gesehen am 08.11.2022}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12573}, } @article{UBHD-68390463, author={Ries, Markus and Bove Bettis, Karen E. and Choyke, Peter and Kopp, Jeffrey B. and Austin, Howard A. and Brady, Roscoe Owen and Schiffmann, Raphael}, title={Parapelvic kidney cysts}, subtitle={a distinguishing feature with high prevalence in Fabry disease}, year={2015}, pages={978-982}, language={eng}, issn={1523-1755}, volume={66}, number={3}, note={Gesehen am 16.05.2019}, journal={Kidney international}, doi={10.1111/j.1523-1755.2004.00846.x}, } @article{UBHD-68390462, author={Ries, Markus and Gupta, Surya N. and Moore, David F. and Sachdev, Vandana and Quirk, Jane M. and Murray, Gary J. and Rosing, Douglas R. and Robinson, Chevalia and Seib-Schaefer, Ellen and Gal, Andreas and Dambrosia, James M. and Garman, Scott C. and Brady, Roscoe Owen and Schiffmann, Raphael}, title={Pediatric Fabry disease}, year={2005}, pages={e344-e355}, language={eng}, issn={1098-4275}, volume={115}, number={3}, note={Gesehen am 16.05.2019}, journal={Pediatrics}, doi={10.1542/peds.2004-1678}, } @incollection{UBHD-68910572, author={Ries, Markus and Mendoza, Grecia and Arash-Kaps, Laila and Amraoui, Yasmina and Quack, Folker and Hardt, Brigitte and Diederich, Stefan and Beck, Michael and Mengel, Eugen}, title={Quantitative longitudinal natural history of eight gangliosidoses}, subtitle={conceptual framework and baseline data of the German 8-in-1 disease registry : a cross-sectional analysis}, year={2022}, pages={1-29}, language={eng}, note={Gesehen am 25.04.2022}, booktitle={medRxiv}, doi={10.1101/2022.04.13.22273562}, } @article{UBHD-68390442, author={Ries, Markus and Moore, David F. and Robinson, Chevalia J. and Tifft, Cynthia J. and Rosenbaum, Kenneth N. and Brady, Roscoe Owen and Schiffmann, Raphael and Krasnewich, Donna}, title={Quantitative dysmorphology assessment in Fabry disease}, year={2006}, pages={6 S.}, language={eng}, issn={1530-0366}, volume={8(2006}, note={Gesehen am 16.05.2019}, journal={Genetics in medicine}, doi={10.1097/01.gim.0000200950.25118.dd}, } @article{UBHD-68970512, author={Ries, Markus and Mendoza, Grecia and Arash-Kaps, Laila and Amraoui, Yasmina and Quack, Folker and Hardt, Brigitte and Diederich, Stefan and Beck, Michael and Mengel, Eugen}, title={Quantitative longitudinal natural history of 8 gangliosidoses}, subtitle={conceptual framework and baseline data of the German 8-in-1 disease registry : a cross-sectional analysis}, year={2022}, pages={2434-2443}, language={eng}, issn={1530-0366}, volume={24}, number={12}, note={Gesehen am 05.10.2022}, journal={Genetics in medicine}, doi={10.1016/j.gim.2022.09.001}, } @article{UBHD-69316579, author={Ries, Markus}, title={Resilienz von Kindern und Jugendlichen bei Katastrophen st{\"a}rken}, year={2025}, pages={119-126}, language={ger}, issn={2196-2839}, volume={25}, note={Gesehen am 10.03.02025}, journal={Forum Marsilius-Kolleg}, doi={10.11588/fmk.2025.25.109299}, url={https://doi.org/10.11588/fmk.2025.25.109299}, library={UB}, } @article{UBHD-68264366, author={Ries, Markus}, title={Roscoe O. Brady, MD}, year={2017}, pages={465-465}, language={eng}, issn={1573-2665}, volume={40}, number={3}, note={First online: 07 April 2017 ; Gesehen am 22.06.2018}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-017-0037-3}, } @book{UBHD-69198150, author={Ries, Markus}, title={Towards better preparedness for future catastrophes}, subtitle={lessons learned from civil-military pandemic response}, publisher={Universit{\"a}tsbibliothek Heidelberg}, address={Heidelberg}, year={2024}, pages={215 Seiten}, language={eng}, isbn={978-3-911056-11-3}, keywords={Deutschland / Zivil-milit{\"a}rische Zusammenarbeit / Katastrophenschutz / Zivilschutz / Katastrophenmanagement}, library={UB [Signatur: UBN/XE 5688 R559]}, } @book{UBHD-69205702, author={Ries, Markus}, title={Towards better preparedness for future catastrophes}, subtitle={lessons learned from civil-military pandemic response}, publisher={Universit{\"a}tsbibliothek Heidelberg}, address={Heidelberg}, year={2024}, pages={1 Online-Ressource (215 Seiten)}, language={eng}, isbn={978-3-911056-04-5}, series={heiBOOKS}, doi={10.11588/heibooks.1331}, keywords={Deutschland / Zivil-milit{\"a}rische Zusammenarbeit / Katastrophenschutz / Zivilschutz / Katastrophenmanagement}, url={https://doi.org/10.11588/heibooks.1331}, library={UB}, } @article{UBHD-68390471, author={Ries, Markus and Mengel, Eugen and Kutschke, G. and Kim, K. S. and Birklein, F. and Krummenauer, Frank and Beck, Michael}, title={Use of gabapentin to reduce chronic neuropathic pain in Fabry disease}, year={2003}, pages={413-414}, language={eng}, issn={1573-2665}, volume={26}, number={4}, note={Gesehen am 16.05.2019}, journal={Journal of inherited metabolic disease}, doi={10.1023/A:1025127723729}, } @article{UBHD-68870948, author={Saffari, Afshin and Schr{\"o}ter, Julian and Garbade, Sven and Alecu, Julian E. and Ebrahimi-Fakhari, Darius and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Quantitative retrospective natural history modeling of WDR45-related developmental and epileptic encephalopathy}, subtitle={a systematic cross-sectional analysis of 160 published cases}, year={2022}, pages={1-13}, language={eng}, issn={1554-8635}, volume={18}, number={7}, note={Online ver{\"o}ffentlicht: 24. November 2021 ; Gesehen am 11.10.2022}, journal={Autophagy}, doi={10.1080/15548627.2021.1990671}, } @article{UBHD-68390459, author={Sch{\"a}fer, Ellen and Baron, Karin and Widmer, Urs and Deegan, Patrick and Neumann, Hartmut P. H. and Sunder-Plassmann, Gere and Johansson, Jan-Ove and Whybra-Tr{\"u}mpler, Catharina and Ries, Markus and Pastores, Gregory M. and Mehta, Atul B. and Beck, Michael and Gal, Andreas}, title={Thirty-four novel mutations of the GLA gene in 121 patients with Fabry disease}, year={2005}, pages={412-418}, language={eng}, issn={1098-1004}, volume={25}, number={4}, note={Gesehen am 16.05.2019}, journal={Human mutation}, doi={10.1002/humu.9327}, } @article{UBHD-68752290, author={Schiffmann, Raphael and Ries, Markus and Blankenship, Derek and Nicholls, Kathy and Mehta, Atul and Clarke, Joe T. R. and Steiner, Robert D. and Beck, Michael and Barshop, Bruce A. and Rhead, William and West, Michael and Martin, Rick and Amato, David and Nair, Nitin and Huertas, Pedro}, title={Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa}, year={2013}, pages={983-989}, language={eng}, issn={1530-0366}, volume={15}, number={12}, note={Gesehen am 24.06.2021}, journal={Genetics in medicine}, doi={10.1038/gim.2013.56}, } @article{UBHD-68390115, author={Schiffmann, Raphael and Hauer, Peter and Freeman, Barbara and Ries, Markus and Scott, Leland J. C. and Polydefkis, Michael and Brady, Roscoe O. and McArthur, Justin C. and Wagner, Kathryn}, title={Enzyme replacement therapy and intraepidermal innervation density in Fabry disease}, year={2006}, pages={53-56}, language={eng}, issn={1097-4598}, volume={34}, number={1}, note={Gesehen am 15.05.2019}, journal={Muscle & nerve}, doi={10.1002/mus.20550}, } @article{UBHD-68189202, author={Schiffmann, Raphael and Ries, Markus}, title={Fabry disease}, subtitle={a disorder of childhood onset}, year={2016}, pages={10-20}, language={eng}, issn={1873-5150}, volume={64}, number={Supplement C}, note={Gesehen am 13.11.2017}, journal={Pediatric neurology}, doi={10.1016/j.pediatrneurol.2016.07.001}, } @article{UBHD-68388023, author={Schiffmann, Raphael and Ries, Markus}, title={Fabry's disease}, subtitle={an important risk factor for stroke}, year={2005}, pages={1754-1756}, language={eng}, issn={1474-547X}, volume={366}, number={9499}, note={Gesehen am 08.05.2019}, journal={The lancet}, doi={10.1016/S0140-6736(05)67636-2}, } @article{UBHD-68388016, author={Schiffmann, Raphael and Ries, Markus}, title={Four-year prospective clinical trial of agalsidase alfa in children with Fabry disease}, year={2010}, pages={832-837.e1}, language={eng}, issn={1097-6833}, volume={156}, number={5}, note={Gesehen am 08.05.2019}, journal={The journal of pediatrics}, doi={10.1016/j.jpeds.2009.11.007}, } @article{UBHD-68390445, author={Schiffmann, Raphael and Ries, Markus and Timmons, Margaret and Flaherty, John T. and Brady, Roscoe Owen}, title={Long-term therapy with agalsidase alfa for Fabry disease}, subtitle={safety and effects on renal function in a home infusion setting}, year={2006}, pages={345-354}, language={eng}, issn={1460-2385}, volume={21}, number={2}, note={Published: 04 October 2005 ; Gesehen am 16.05.2019}, journal={Nephrology, dialysis, transplantation}, doi={10.1093/ndt/gfi152}, } @article{UBHD-68390117, author={Schiffmann, Raphael and Rapkiewicz, Amy and Abu-Asab, Mones and Ries, Markus and Askari, Hasan and Tsokos, Maria and Quezado, Martha}, title={Pathological findings in a patient with Fabry disease who died after 2.5 years of enzyme replacement}, year={2006}, pages={337-343}, language={eng}, issn={1432-2307}, volume={448}, number={3}, note={First online: 29 November 2005 ; Gesehen am 15.05.2019}, journal={Virchows Archiv}, doi={10.1007/s00428-005-0089-x}, } @article{UBHD-68032807, author={Schiffmann, Raphael and Ries, Markus}, title={A prospective 10-year study of individualized, intensified enzyme replacement therapy in advanced Fabry disease}, year={2015}, pages={1129-1136}, language={eng}, issn={1573-2665}, volume={38}, number={6}, note={Gesehen am 27.09.2016}, journal={Journal of inherited metabolic disease}, doi={10.1007/s10545-015-9845-5}, } @article{UBHD-68388480, author={Schiffmann, Raphael and Ries, Markus}, title={Randomized, controlled trial of miglustat in Gaucher’s disease type 3}, year={2008}, pages={514-522}, language={eng}, issn={1531-8249}, volume={64}, number={5}, note={Gesehen am 09.05.2019}, journal={Annals of neurology}, doi={10.1002/ana.21491}, } @article{UBHD-68381183, author={Schiffmann, Raphael and Ries, Markus}, title={Screening, diagnosis, and management of patients with Fabry disease}, subtitle={conclusions from a “Kidney Disease: Improving Global Outcomes” (KDIGO) Controversies Conference}, year={2017}, pages={284-293}, language={eng}, issn={1523-1755}, volume={91}, number={2}, note={Other Conference participants Daniel G. Bichet, Canada; Erik Ilsø Christensen, Denmark; Ricardo Correa-Rotter, Mexico; Perry M. Elliott, UK; Sandro Feriozzi, Italy; Agnes B. Fogo, USA; Dominique P. Germain, France; Carla E.M. Hollak, Netherlands; Robert J. Hopkin, USA; Jack Johnson, USA; Ilkka Kantola, Finland; Jeffrey B. Kopp, USA; J{\"u}rgen Kr{\"o}ner, Germany; Ales Linhart, Czech Republic; Ana Maria Martins, Brazil; Dietrich Matern, USA; Atul B. Mehta, UK; Renzo Mignani, Italy; Behzad Najafian, USA; Ichiei Narita, Japan; Kathy Nicholls, Australia; Greg T. Obrador, Mexico; João Paulo Oliveira, Portugal; Antonio Pisani, Italy; Juan Politei, Argentina; Uma Ramaswami, UK; Markus Ries, Germany; Wim Terryn, Belgium; Camilla Tøndel, Norway; Roser Torra, Spain; Bojan Vujkovac, Slovenia; Stephen Waldek, UK; Jerry Walter, USA ; Available online 18 December 2016 ; Gesehen am 17.04.2019}, journal={Kidney international}, doi={10.1016/j.kint.2016.10.004}, } @article{UBHD-68388483, author={Schiffmann, Raphael and Ries, Markus}, title={Weekly enzyme replacement therapy may slow decline of renal function in patients with Fabry disease who are on long-term biweekly dosing}, year={2007}, pages={1576-1583}, language={eng}, issn={1533-3450}, volume={18}, number={5}, note={Gesehen am 09.05.2019}, journal={Journal of the American Society of Nephrology}, doi={10.1681/ASN.2006111263}, } @article{UBHD-68740526, author={Schr{\"o}ter, Julian and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies}, year={2021}, pages={516-523}, language={eng}, issn={1530-0366}, volume={23}, number={3}, note={Published: 21 October 2020 ; Gesehen am 25.05.2021}, journal={Genetics in medicine}, doi={10.1038/s41436-020-01001-z}, url={https://doi.org/10.1038/s41436-020-01001-z}, library={UB}, } @article{UBHD-68769815, author={Schulze, Christoph and Welker, Andreas and K{\"u}hn, Anne and Schwertz, Rainer and Otto, Benjamin and Moraldo, Laura and Dentz, Udo and Arends, Albertus and Welk, Eckhard and Wendorff, Jean-Jacques and Koller, Hans and Kuss, Doreen and Ries, Markus}, title={Public health leadership in a VUCA world environment}, subtitle={lessons learned during the regional emergency rollout of SARS-CoV-2 vaccinations in Heidelberg, Germany, during the COVID-19 pandemic}, year={2021}, pages={1-14}, language={eng}, issn={2076-393X}, volume={9}, note={Gesehen am 11.08.2021}, journal={Vaccines}, doi={10.3390/vaccines9080887}, url={https://doi.org/10.3390/vaccines9080887}, library={UB}, } @article{UBHD-68388477, author={Schwartz, Ida Vanessa and Ries, Markus}, title={Punctate calcifications in lysosomal storage disorders}, year={2009}, pages={172-177}, language={eng}, issn={1473-5717}, volume={18}, number={3}, note={Gesehen am 09.05.2019}, journal={Clinical dysmorphology}, doi={10.1097/MCD.0b013e32832a9ed5}, } @article{UBHD-68381178, author={Sláma, Tomáš and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={Quantitative natural history characterization in a cohort of 142 published cases of patients with galactosialidosis}, subtitle={a cross-sectional study}, year={2019}, pages={295-302}, language={eng}, issn={1573-2665}, volume={42}, number={2}, note={First published: 27 December 2018 ; Gesehen am 17.04.2019}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12010}, } @article{UBHD-68387986, author={Stockklausner, Clemens and Lampert, Anette and Hoffmann, Georg F. and Ries, Markus}, title={Novel treatments for rare cancers}, subtitle={the U.S. orphan drug act is delivering : a cross-sectional analysis}, year={2016}, pages={487-493}, language={eng}, issn={1549-490X}, volume={21}, number={4}, note={Gesehen am 08.05.2019}, journal={The oncologist}, doi={10.1634/theoncologist.2015-0397}, } @article{UBHD-69098314, author={Thalwitzer, Kim M. and Driedger, Jan Henje and Xian, Julie and Saffari, Afshin and Zacher, Pia and B{\"o}lsterli, Bigna K. and McKeown Ruggiero, Sarah and Sullivan, Katie Rose and Datta, Alexandre N. and Kellinghaus, Christoph and Althaus, J{\"u}rgen and Wiemer-Kruel, Adelheid and van Baalen, Andreas and Pampel, Armin and Alber, Michael and Braakman, Hilde M. H. and Debus, Otfried Martin and Denecke, Jonas and Hobbiebrunken, Elke and Breitweg, Ina and Diehl, Danielle and Eitel, Hans Christian and Gburek-Augustat, Janina and Preisel, Martin and Schlump, Jan-Ulrich and Laufs, Mirjam and Mammadova, Dilbar and Wurst, Carsten and Prager, Christine and L{\"o}hr-Nilles, Christa and Martin, Peter and Garbade, Sven and Platzer, Konrad and Benkel-Herrenbrueck, Ira and Egler, Kerstin and Fazeli, Walid and Lemke, Johannes R. and Runkel, Eva and Klein, Barbara and Linden, Tobias and Schr{\"o}ter, Julian and Steffeck, Heike and Thies, Bastian and Deimling, Florian von and Illsinger, Sabine and Borggr{\"a}fe, Ingo and Classen, Georg and Wieczorek, Dagmar and Ramantani, Georgia and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus and Helbig, Ingo and Syrbe, Steffen}, title={Natural history and developmental trajectories of individuals with disease-causing variants in STXBP1}, year={2023}, pages={e879-e891}, language={eng}, issn={1526-632X}, volume={101}, number={9}, note={Gesehen am 17.07.2023}, journal={Neurology}, doi={10.1212/WNL.0000000000207550}, } @article{UBHD-68965259, author={Trudzinski, Franziska and Presotto, Maria Ada and Buck, Emanuel and Herth, Felix and Ries, Markus}, title={Orphan drug development in alpha-1 antitypsin deficiency}, year={2022}, pages={1-8}, language={eng}, issn={2045-2322}, volume={12}, number={Artikel-ID 15497}, note={Gesehen am 19.09.2022}, journal={Scientific reports}, doi={10.1038/s41598-022-19707-2}, url={https://doi.org/10.1038/s41598-022-19707-2}, library={UB}, } @incollection{UBHD-68921231, author={Trudzinski, Franziska and Presotto, Maria Ada and Buck, Emanuel and Herth, Felix and Ries, Markus}, title={The outcome of more than 3 decades of orphan drug development in alpha-1-antitypsin deficiency}, subtitle={a cross sectional analysis of the FDA Orphan Drug Product designation database}, edition={Version 1}, year={2022}, pages={1-13}, language={eng}, issn={2693-5015}, note={Gesehen am 23.05.2022}, booktitle={Research Square}, doi={10.21203/rs.3.rs-1639622/v1}, } @article{UBHD-69281483, author={Urban, Oliver Y. and Driedger, Jan Henje and Garbade, Sven and Hoffmann, Georg F. and K{\"o}lker, Stefan and Ries, Markus and Syrbe, Steffen}, title={Systematic quantitative modeling of the natural history of Aicardi syndrome}, subtitle={a cross sectional study of 245 published cases}, year={2024}, pages={1-11}, language={eng}, issn={1750-1172}, volume={19}, number={Artikel-ID 457}, note={Gesehen am 09.12.2024}, journal={Orphanet journal of rare diseases}, doi={10.1186/s13023-024-03375-8}, } @incollection{UBHD-68388028, author={Wendrich, Kristine and Whybra-Tr{\"u}mpler, Catharina and Ries, Markus and Gal, Andreas and Beck, Michael}, title={Neurological manifestation of Fabry disease in females}, year={2001}, pages={241-244}, language={eng}, isbn={978-3-318-00751-0}, note={Gesehen am 08.05.2019}, booktitle={Rare kidney diseases}, editor={Schieppati, Arrigo}, doi={10.1159/000060195}, } @article{UBHD-68388478, author={West, Michael and Ries, Markus}, title={Agalsidase alfa and kidney dysfunction in Fabry disease}, year={2009}, pages={1132-1139}, language={eng}, issn={1533-3450}, volume={20}, number={5}, note={Gesehen am 09.05.2019}, journal={Journal of the American Society of Nephrology}, doi={10.1681/ASN.2008080870}, } @incollection{UBHD-68388027, author={Whybra-Tr{\"u}mpler, Catharina and Wendrich, Kristine and Ries, Markus and Gal, Andreas and Beck, Michael}, title={Clinical manifestation in female Fabry disease patients}, year={2001}, pages={245-250}, language={eng}, isbn={978-3-318-00751-0}, note={Gesehen am 08.05.2019}, booktitle={Rare kidney diseases}, editor={Schieppati, Arrigo}, doi={10.1159/000060196}, } @article{UBHD-68390466, author={Whybra-Tr{\"u}mpler, Catharina and Kampmann, Christoph and Krummenauer, Frank and Ries, Markus and Mengel, Eugen and Miebach, Elke and Baehner, Frank and Kim, K. and Bajbouj, M. and Schwarting, Andreas and Gal, Andreas and Beck, Michael}, title={The Mainz Severity Score Index}, subtitle={a new instrument for quantifying the Anderson-Fabry disease phenotype, and the response of patients to enzyme replacement therapy}, year={2004}, pages={299-307}, language={eng}, issn={1399-0004}, volume={65}, number={4}, note={Gesehen am 16.05.2019}, journal={Clinical genetics}, doi={10.1111/j.1399-0004.2004.00219.x}, } @article{UBHD-68295769, author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={Corrigendum: Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis}, year={2018}, pages={474}, language={eng}, issn={1530-0366}, volume={20}, number={4}, note={Gesehen am 17.08.2018 ; Online publication, 28 September 2017 ; An erratum to this article was published on 09 January 2018 ; The original article was published on 06 April 2017}, journal={Genetics in medicine}, doi={10.1038/gim.2017.87}, } @article{UBHD-68296150, author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={A cross-sectional quantitative analysis of the natural history of Farber disease}, subtitle={an ultra-orphan condition with rheumatologic and neurological cardinal disease features}, year={2018}, pages={524-530}, language={eng}, issn={1530-0366}, volume={20}, number={5}, note={Advance online publication 19 October 2017 ; Published: 19 October 2017 ; Gesehen am 16.08.2018}, journal={Genetics in medicine}, doi={10.1038/gim.2017.133}, } @article{UBHD-68381181, author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={A cross-sectional quantitative analysis of the natural history of free sialic acid storage disease}, subtitle={an ultra-orphan multisystemic lysosomal storage disorder}, year={2019}, pages={347-352}, language={eng}, issn={1530-0366}, volume={21}, number={2}, note={Published: 06 June 2018 ; Gesehen am 17.04.2019}, journal={Genetics in medicine}, doi={10.1038/s41436-018-0051-3}, } @article{UBHD-68296094, author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={Quantitative clinical characteristics of 53 patients with MPS VII}, subtitle={a cross-sectional analysis}, year={2017}, pages={983-988}, language={eng}, issn={1530-0366}, volume={19}, number={9}, note={Gesehen am 17.08.2018 ; Advance online publication 6 April 2017 ; A corrigendum to this article was published on 28 September 2017}, journal={Genetics in medicine}, doi={10.1038/gim.2017.10}, } @article{UBHD-68400595, author={Zielonka, Matthias and Garbade, Sven and K{\"o}lker, Stefan and Hoffmann, Georg F. and Ries, Markus}, title={Ultra-orphan lysosomal storage diseases}, subtitle={a cross-sectional quantitative analysis of the natural history of alpha-mannosidosis}, year={2019}, pages={975-983}, language={eng}, issn={1573-2665}, volume={42}, number={5}, note={Gesehen am 30.10.2019}, journal={Journal of inherited metabolic disease}, doi={10.1002/jimd.12138}, }