Zobrazeno 1 - 10
of 61
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:
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
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
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
Publikováno v:
Biochimica et Biophysica Acta (BBA) - Molecular Cell Research. 1051:78-83
Cholecystokinin (CCK) receptors on rat pancreatic acini have been demonstrated to be glycoproteins. In order to study whether their carbohydrate moieties play a role in ligand binding, membrane preparations (adjusted to 0.2 mg protein me) were incuba
Autor:
Rita Horvath, Gavin Hudson, Gianfrancesco Ferrari, Nancy Fütterer, Sofia Ahola, Eleonora Lamantea, Holger Prokisch, Hanns Lochmüller, Robert McFarland, V. Ramesh, Thomas Klopstock, Peter Freisinger, Fabrizio Salvi, Johannes A. Mayr, Rene Santer, Marketa Tesarova, Jiri Zeman, Bjarne Udd, Robert W. Taylor, Douglass Turnbull
Publikováno v:
Brain: A Journal of Neurology; Jul2006, Vol. 129 Issue 7, p1674-1684, 11p
Autor:
Dulz, Simon1,2 (AUTHOR) s.dulz@uke.de, Atiskova, Yevgeniya1,2 (AUTHOR), Engel, Peter1,2 (AUTHOR), Wildner, Jan1,2 (AUTHOR), Tsiakas, Konstantinos1,2 (AUTHOR), Santer, Rene1,2 (AUTHOR)
Publikováno v:
Ophthalmic Genetics. Feb2021, Vol. 42 Issue 1, p23-27. 5p.
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Publikováno v:
Medical Imaging Week; 7/7/2023, p632-632, 1p