Zobrazeno 1 - 10
of 18
pro vyhledávání: '"Rene Santer"'
Autor:
Katrin Kollmann, Jan Malte Pestka, Sonja Christin Kühn, Elisabeth Schöne, Michaela Schweizer, Kathrin Karkmann, Takanobu Otomo, Philip Catala‐Lehnen, Antonio Virgilio Failla, Robert Percy Marshall, Matthias Krause, Rene Santer, Michael Amling, Thomas Braulke, Thorsten Schinke
Publikováno v:
EMBO Molecular Medicine, Vol 5, Iss 12, Pp 1871-1886 (2013)
Abstract Mucolipidosis type II (MLII) is a severe multi‐systemic genetic disorder caused by missorting of lysosomal proteins and the subsequent lysosomal storage of undegraded macromolecules. Although affected children develop disabling skeletal ab
Externí odkaz:
https://doaj.org/article/0221b86517e749d69825ca9647adadc6
Autor:
Ulrike Mütze, Florian Gleich, Ivo Barić, Mathias Baumgartner, Alberto Burlina, Kimberly A. Chapman, Yin‐Hsiu Chien, Elisenda Cortès‐Saladelafont, Corinne De Laet, Dries Dobbelaere, Francois Eysken, Matthias Gautschi, Rene Santer, Johannes Häberle, Clara Joaquín, Daniela Karall, Martin Lindner, Allan M. Lund, Chris Mühlhausen, Elaine Murphy, Dominique Roland, Angeles Ruiz Gomez, Anastasia Skouma, Sarah C. Grünert, Margreet Wagenmakers, Sven F. Garbade, Stefan Kölker, Nikolas Boy
Publikováno v:
Journal of inherited metabolic disease
Journal of Inherited Metabolic Disease, 46(2), 220-231. Springer Netherlands
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S & Boy, N 2023, ' Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 220-231 . https://doi.org/10.1002/jimd.12572
Journal of Inherited Metabolic Disease, 46(2), 220-231. Springer Netherlands
Mütze, U, Gleich, F, Barić, I, Baumgartner, M, Burlina, A, Chapman, K A, Chien, Y H, Cortès-Saladelafont, E, De Laet, C, Dobbelaere, D, Eysken, F, Gautschi, M, Santer, R, Häberle, J, Joaquín, C, Karall, D, Lindner, M, Lund, A M, Mühlhausen, C, Murphy, E, Roland, D, Ruiz Gomez, A, Skouma, A, Grünert, S C, Wagenmakers, M, Garbade, S F, Kölker, S & Boy, N 2023, ' Impact of the SARS-CoV-2 pandemic on the health of individuals with intoxication-type metabolic diseases—Data from the E-IMD consortium ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 220-231 . https://doi.org/10.1002/jimd.12572
The SARS-CoV-2 pandemic challenges healthcare systems worldwide. Within inherited metabolic disorders (IMDs) the vulnerable subgroup of intoxication-type IMDs such as organic acidurias (OA) and urea cycle disorders (UCD) show risk for infection-induc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa0c68404c358583f1514a04e70a1ea6
Autor:
Ulrike Mütze, Alina Ottenberger, Florian Gleich, Esther M. Maier, Martin Lindner, Ralf A. Husain, Katja Palm, Skadi Beblo, Peter Freisinger, René Santer, Eva Thimm, Stephan vom Dahl, Natalie Weinhold, Karina Grohmann‐Held, Claudia Haase, Julia B. Hennermann, Alexandra Hörbe‐Blindt, Clemens Kamrath, Iris Marquardt, Thorsten Marquardt, Robert Behne, Dorothea Haas, Ute Spiekerkoetter, Georg F. Hoffmann, Sven F. Garbade, Sarah C. Grünert, Stefan Kölker
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 4, Pp 883-898 (2024)
Abstract Objective This study aims to elucidate the long‐term benefit of newborn screening (NBS) for individuals with long‐chain 3‐hydroxy‐acyl‐CoA dehydrogenase (LCHAD) and mitochondrial trifunctional protein (MTP) deficiency, inherited me
Externí odkaz:
https://doaj.org/article/e200e6208cf9442cbf0392820af77732
Autor:
Simona Murko, Asra Dadkhah Aseman, Friederike Reinhardt, Gwendolyn Gramer, Jürgen Günther Okun, Ulrike Mütze, René Santer
Publikováno v:
JIMD Reports, Vol 64, Iss 1, Pp 114-120 (2023)
Abstract Newborn screening (NBS) for isovaleric acidemia (IVA) is performed by flow injection tandem mass spectrometry quantifying C5 carnitines (C5). Isovalerylcarnitine, however, is isomeric with pivaloylcarnitine which can be present in blood due
Externí odkaz:
https://doaj.org/article/d64f6f1ad0a343af9d17e4700b645e82
Autor:
Simona Murko, Manuela Peschka, Konstantinos Tsiakas, Sebastian Schulz-Jürgensen, Uta Herden, René Santer
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 35, Iss , Pp 100977- (2023)
We report on liver transplantation in two patients with GSD Ib on treatment with empagliflozin. The use of this SGLT2 inhibitor resulted in a marked decrease of 1,5-anhydroglucitol which has an important role in the development of neutropenia in this
Externí odkaz:
https://doaj.org/article/e049a4635f7e47b9a9cc6f2834fe2e5d
Autor:
Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
Publikováno v:
Redox Biology, Vol 58, Iss , Pp 102517- (2022)
Regulation of H2S homeostasis in humans is poorly understood. Therefore, we assessed the importance of individual enzymes in synthesis and catabolism of H2S by studying patients with respective genetic defects. We analyzed sulfur compounds (including
Externí odkaz:
https://doaj.org/article/c104284c656d4baba6f0fc3dc95350b4
Autor:
Oya Kuseyri Hübschmann, Gabriella Horvath, Elisenda Cortès-Saladelafont, Yılmaz Yıldız, Mario Mastrangelo, Roser Pons, Jennifer Friedman, Saadet Mercimek-Andrews, Suet-Na Wong, Toni S. Pearson, Dimitrios I. Zafeiriou, Jan Kulhánek, Manju A. Kurian, Eduardo López-Laso, Mari Oppebøen, Sebile Kılavuz, Tessa Wassenberg, Helly Goez, Sabine Scholl-Bürgi, Francesco Porta, Tomáš Honzík, René Santer, Alberto Burlina, H. Serap Sivri, Vincenzo Leuzzi, Georg F. Hoffmann, Kathrin Jeltsch, Daniel Hübschmann, Sven F. Garbade, iNTD Registry Study Group, Angeles García-Cazorla, Thomas Opladen
Publikováno v:
Nature Communications, Vol 12, Iss 1, Pp 1-15 (2021)
Inherited disorders of neurotransmitter metabolism represent a group of rare neurometabolic diseases characterized by movement disorders and developmental delay. Here, the authors report a standardized evaluation of a registry of 275 patients from 42
Externí odkaz:
https://doaj.org/article/57ed0d119cac4d23beb8d71a0c1e8d75
Autor:
Uwe, Kordes, Andrea, Richter, Rene, Santer, Hansjörg, Schäfer, Dominique, Singer, Josef, Sonntag, Ulrike, Steuerwald, Reinhard, Schneppenheim, Gritta, Janka
Publikováno v:
Pediatric bloodcancer. 54(5)
We report a Caucasian neonate with chronic non-spherocytic hemolytic anemia due to a class I G6PD deficiency. A novel mutation missense mutation in exon eight of the G6PD gene was detected (c.827CT p.Pro276Leu). Bilirubin peaked on day 5 at 24 mg/dl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::257fabde41a6e24560273f77e78e11d7
https://pubmed.ncbi.nlm.nih.gov/20052779
https://pubmed.ncbi.nlm.nih.gov/20052779
Publikováno v:
Computers and Biomedical Research. 24:209-221
The stepwise catalytic degradation of a polymer to its constituent subunits results in many molecules of polymers of shorter chain length. Using the Law of Mass Action, ordinary differential equations for each species can be obtained from the set of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3c31d18b2cdf095e81a51a8489cc9ac7
https://doi.org/10.1016/0010-4809(91)90044-w
https://doi.org/10.1016/0010-4809(91)90044-w
Publikováno v:
Pancreas. 5:210-215
Neonatal rat pancreata are not responsive to stimulation by cholecystokinin (CCK) and this has been shown to be due partly to low binding of CCK to pancreatic acinar cells of rats at this age. The effect of thyroxine on the maturation of CCK receptor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9d05d33a467c5616fbe0998d323025ff
https://doi.org/10.1097/00006676-199003000-00014
https://doi.org/10.1097/00006676-199003000-00014