Zobrazeno 1 - 10
of 23
pro vyhledávání: '"Gisela Haege"'
Autor:
Gwendolyn Gramer, Georg F. Hoffmann, Gisela Haege, Peter Burgard, Vera Schuhmann, Claus-Dieter Langhans
Publikováno v:
Prostaglandins, Leukotrienes and Essential Fatty Acids. 109:52-57
Background Patients with phenylketonuria have been reported to be deficient in long-chain polyunsaturated fatty acids (LCPUFAs). It has been postulated that good compliance with the dietary regimen negatively influences LCPUFA status. Methods In 36 p
Publikováno v:
Journal of Inherited Metabolic Disease. 39:219-229
For urea cycle disorders (UCD), proportions and mortality of early onset (EO) patients, as well as outcome at one year of life show large variability. We aimed to integrate available evidence to create benchmarks for new diagnostic and therapeutic st
Autor:
Carlo Dionisi-Vici, Peter Burgard, E. Bauchart, Stefan Kölker, Daniela Karall, Manuel Schiff, K. Mention, Esmeralda Rodrigues, Jiří Zeman, Javier Blasco-Alonso, Hélène Ogier de Baulny, E. Leão Teles, Allan M. Lund, Angeles Garcia-Cazorla, Jolanta Sykut-Cegielska, M. Djordjevic, Hariklea Ioannou, Sylvia Grünewald, Carlos Ortez, Frits A. Wijburg, Vassili Valayannopoulos, M.T. Cardoso, Chris Mühlhausen, Anupam Chakrapani, Wanda Gradowska, Florian Gleich, Nicholas Thompson, Dries Dobbelaere, François Eyskens, Peter Freisinger, Pascale de Lonlay, Roshni Vara, Wuh-Liang Hwu, Victoria Riches, Johannes Häberle, Elisenda Cortès-Saladelafont, Matthias R. Baumgartner, Anaïs Brassier, Diego Martinelli, Gisela Haege, María L. Couce, Brigitte Chabrol, Ivo Barić, Corinne De Laet, Luis Peña-Quintana, Anil Jalan, Matthias Zielonka, Etienne Sokal, Linda De Meirleir, Roland Posset, John H. Walter, Elaine Murphy, Martin Lindner, Jean Baptiste Arnoux, Alberto Burlina, Monique Williams
Publikováno v:
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Due to an unfortunate error during the typesetting process, the collaborators were presented incorrectly.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ba270118f19ab99fd6ac67c6eaf4a62
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13449
http://fundanet.fsjd.org/Publicaciones/ProdCientif/PublicacionFrw.aspx?id=13449
Autor:
Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gödde, Silvia Vogel, Frauke Schuster, Valerie Orth, Johannes Dörner, Daniel Pembaur, Meike Röper, Stefan Störkel, Hubert Zirngibl, Stefan Wirth, Andreas C. W. Jenke, Jan Postberg, Nikolas Boy, Jana Heringer, Gisela Haege, Esther M. Glahn, Georg F. Hoffmann, Sven F. Garbade, Peter Burgard, Stefan Kölker, Cho-Ming Chao, Faady Yahya, Alena Moiseenko, Amit Shrestha, Negah Ahmadvand, Jennifer Quantius, Jochen Wilhelm, Elie El-Agha, Klaus-Peter Zimmer, Saverio Bellusci, Christian Staufner, Holger Prokisch, Stephan Seeliger, Matthias Müller, Andreas Hippe, Henrik Steinkraus, Roland Wauer, Burkhard Lachmann, Sigrun R. Hofmann, Christian M. Hedrich, Jakob Zierk, Farhad Arzideh, Rainer Haeckel, Wolfgang Rascher, Manfred Rauh, Markus Metzler, Sebastian Thieme, Joanna Bandoła, Cornelia Richter, Martin Ryser, Arshad Jamal, Michelle P. Ashton, Malte von Bonin, Matthias Kuhn, Ezio Bonifacio, Reinhard Berner, Sebastian Brenner, Johanna Hammersen, Cristina Has, Nora Naumann-Bartsch, Daniel Stachel, Dimitra Kiritsi, Stephan Söder, Mathilde Tardieu, Leena Bruckner-Tuderman, Holm Schneider, F. Bohne, D. Langer, R. Cencic, T. Eggermann, U. Zechner, J. Pelletier, F. Zepp, T. Enklaar, D. Prawitt, Martin Pech, Markus Weckmann, Femke-Anouska Heinsen, Andre Franke, Christine Happle, Anna-Maria Dittrich, Gesine Hansen, Oliver Fuchs, Erika von Mutius, Brian G. Oliver, Matthias V. Kopp, Claudia Paret, Alexandra Russo, Johanna Theruvath, Bettina Keller, Khalifa El Malki, Nadine Lehmann, Arthur Wingerter, Marie A. Neu, Gerhold-Ay Aslihan, Wolfgang Wagner, Clemens Sommer, Torsten Pietsch, Larissa Seidmann, Jörg Faber, Felix Schreiner, Merle Ackermann, Michael Michalik, Eva Rother, Andras Bilkei-Gorzo, Ildiko Racz, Laura Bindila, Beat Lutz, Jörg Dötsch, Andreas Zimmer, Joachim Woelfle, Hendrik S. Fischer, Tim L. Ullrich, Christoph Bührer, Christoph Czernik, Gerd Schmalisch, Robert Stein, Judith Hagenbuchner, Ursula Kiechl-Kohlendorfer, Petra Obexer, Michael J. Ausserlechner, Niki T. Loges, Adrien Tobias Frommer, Julia Wallmeier, Heymut Omran, Soner Öner-Sieben, Martina Gimpfl, Jan Rozman, Martin Irmler, Johannes Beckers, Martin Hrabe De Angelis, Adelbert Roscher, Eckhard Wolf, Regina Ensenauer, Karolina Nemes, Michael Frühwald, Martin Hasselblatt, Reiner Siebert, Uwe Kordes, Marcel Kool, Haicui Wang, Holly Hardy, Osama Refai, Katy E. S. Barwick, Holly H. Zimmerman, Joachim Weis, Emma L. Baple, Andrew H. Crosby, Sebahattin Cirak, C. Hellmuth, O. Uhl, M. Standl, J. Heinrich, E. Thiering, B. Koletzko, Lena Blümel, Kornelius Kerl, Daniel Picard, Michael C. Frühwald, Max C. Liebau, Guido Reifenberger, Arndt Borkhardt, Marc Remke, D. Tews, M. Wabitsch, P. Fischer-Posovszky, Mike-Andrew Westhoff, Lisa Nonnenmacher, Julia Langhans, Lukas Schneele, Nancy Trenkler, Klaus-Michael Debatin
Publikováno v:
Mol. Cell. Pediatr. 4, 1:5 (2017)
Publikováno v:
American Journal of Medical Genetics Part A. 161:1008-1011
Smith-Lemli-Opitz (SLOS), or RSH syndrome, is an autosomal recessive deficiency of 7-dehydrocholesterol reductase (DHCR7) resulting in an accumulation of 7- and 8-dehydrocholesterol (7- and 8-DHC) in tissues and body fluids. At birth patients have va
Autor:
Birgit Förl, P. Weimer, Gwendolyn Gramer, C. Springer, Hermann Krastel, Martin Lindner, Friederike Mackensen, Georg F. Hoffmann, Peter Burgard, Hans E. Völcker, Edith Müller, Gisela Haege
Publikováno v:
Molecular Genetics and Metabolism. 108:1-7
Background In phenylketonuria presymptomatic treatment following newborn screening prevents severe mental and physical impairment. The reasons for subtle impairments of cerebral functions despite early treatment remain unclear. We assessed a broad sp
Autor:
Chuan-Chi Chiang, Georg F. Hoffmann, Ghassan Abdoh, Gisela Haege, Peter Burgard, Junmin Fang-Hoffmann, Abdul Latif Al Khal, Noora Shahbeck, Kathrin V. Schmidt, Hongying Gan-Schreier, Hilal Al Rifai, David C. Kasper, Bridget Wilcken, Tawfeq Ben-Omran, G. Gramer, Jürgen G. Okun
Publikováno v:
JIMD Reports ISBN: 9783662543849
Background: In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier str
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::95525df615ac1824c1ec6748f806d89c
https://doi.org/10.1007/8904_2016_556
https://doi.org/10.1007/8904_2016_556
Autor:
S. P Nikolas Boy, David M. Koeller, Georg F. Hoffmann, E. Müller, Peter Burgard, Gisela Haege, Esther M. Maier, Stefan Kölker, Regina Ensenauer, Andrea Schlune, Chris Mühlhausen, Jana Heringer, Cheryl R. Greenberg
Publikováno v:
Molecular Genetics and Metabolism. 107:72-80
The cerebral formation and entrapment of neurotoxic dicarboxylic metabolites (glutaryl-CoA, glutaric and 3-hydroxyglutaric acid) are considered to be important pathomechanisms of striatal injury in glutaric aciduria type I (GA-I). The quantitatively
Autor:
Gisela Haege, Stephanie S Weinreich, Tessel Rigter, J. Gerard Loeber, Georg F. Hoffmann, Martina C. Cornel, Martin Lindner, Domenica Taruscio, Peter Burgard, Luciano Vittozzi, Kathrin Rupp
Publikováno v:
Journal of Inherited Metabolic Disease, 35(4), 613-625. Springer Netherlands
Burgard, P, Rupp, K, Lindner, M, Haege, G, Rigter, T, Weinreich, S S, Loeber, J G, Taruscio, D, Vittozzi, L, Cornel, M C & Hoffmann, G F 2012, ' Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance ', Journal of Inherited Metabolic Disease, vol. 35, no. 4, pp. 613-625 . https://doi.org/10.1007/s10545-012-9484-z
Burgard, P, Rupp, K, Lindner, M, Haege, G, Rigter, T, Weinreich, S S, Loeber, J G, Taruscio, D, Vittozzi, L, Cornel, M C & Hoffmann, G F 2012, ' Newborn screening programmes in Europe; arguments and efforts regarding harmonization. Part 2. From screening laboratory results to treatment, follow-up and quality assurance ', Journal of Inherited Metabolic Disease, vol. 35, no. 4, pp. 613-625 . https://doi.org/10.1007/s10545-012-9484-z
In a survey conducted in 2010/2011 data from the 28 EU member states, four EU candidate states (Croatia, FYROM, Iceland, Turkey), three potential EU candidate states (Bosnia Herzegovina, Montenegro, Serbia), and two EFTA states (Norway and Switzerlan
Autor:
Jürgen G, Okun, Hongying, Gan-Schreier, Tawfeq, Ben-Omran, Kathrin V, Schmidt, Junmin, Fang-Hoffmann, Gwendolyn, Gramer, Ghassan, Abdoh, Noora, Shahbeck, Hilal, Al Rifai, Abdul Latif, Al Khal, Gisela, Haege, Chuan-Chi, Chiang, David C, Kasper, Bridget, Wilcken, Peter, Burgard, Georg F, Hoffmann
Publikováno v:
JIMD reports. 32
In classical homocystinuria (HCU, MIM# 236200) due to the deficiency of cystathionine β-synthase (EC 4.2.1.22) there is a clear evidence for the success of early treatment. The aim of this study was to develop and evaluate a two-tier strategy for HC