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Gruppiert nach: Dokumententyp | Veröffentlichungsdatum
Anzahl der Publikationen: 11

Zeitschriftenartikel

Barhold, Friederike; Meyer, Uta; Neugebauer, Anne-Kathrin; Thimm, Eva Maria; Lier, Dinah; Rosenbaum-Fabian, Stefanie; Och, Ulrike; Fekete, Anna; Moslinger, Dorothea; Rohde, Carmen; Beblo, Skadi; Hochuli, Michel; Bogovic, Nina; Korpel, Vanessa; vom Dahl, Stephan; Mayorandan, Sebene; Fischer, Aleksandra; Freisinger, Peter; Dokoupil, Katharina; Heddrich-Ellerbrok, Margret; Jorg-Streller, Monika; Teeffelen-Heithoff, Agnes van; Lahl, Janina und Das, Anibh Martin (2021): Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome. In: Nutrients, Bd. 13, Nr. 1, 134

Maertner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Kraemer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Naeke, Andrea; Hoffmann, Georg F.; Muehlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Koelker, Stefan und Boy, Nikolas (2021): The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study. In: Scientific Reports, Bd. 11, Nr. 1, 19300

Muetze, Ulrike; Henze, Lucy; Gleich, Florian; Lindner, Martin; Gruenert, Sarah C.; Spiekerkoetter, Ute; Santer, Rene; Blessing, Holger; Thimm, Eva; Ensenauer, Regina; Weigel, Johannes; Beblo, Skadi; Arelin, Maria; Hennermann, Julia B.; Marquardt, Thorsten; Marquardt, Iris; Freisinger, Peter; Kraemer, Johannes; Dieckmann, Andrea; Weinhold, Natalie; Keller, Mareike; Walter, Magdalena; Schiergens, Katharina A.; Maier, Esther M.; Hoffmann, Georg F.; Garbade, Sven F. und Koelker, Stefan (2021): Newborn screening and disease variants predict neurological outcome in isovaleric aciduria. In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 4: S. 857-870

Maertner, E. M. Charlotte; Maier, Esther M.; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Santer, Rene; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer-Seifert, Jana; Lenz, Dominic; Hoffmann, Georg F.; Muehlhausen, Chris; Ensenauer, Regina; Garbade, Sven F.; Koelker, Stefan und Boy, Nikolas (2020): Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1: A national prospective multi-centre study. In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 3: S. 629-638

Boy, Nikolas; Mengler, Katharina; Thimm, Eva; Schiergens, Katharina A.; Marquardt, Thorsten; Weinhold, Natalie; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Gruenert, Sarah C.; Vossbeck, Judith; Steinfeld, Robert; Baumgartner, Matthias R.; Beblo, Skadi; Dieckmann, Andrea; Naeke, Andrea; Lindner, Martin; Heringer, Jana; Hoffmann, Georg F.; Muehlhausen, Chris; Maier, Esther M.; Ensenauer, Regina; Garbade, Sven F. und Koelker, Stefan (2018): Newborn screening: A disease-changing intervention for glutaric aciduria type 1. In: Annals of Neurology, Bd. 83, Nr. 5: S. 970-979

Gruenert, Sarah C.; Muellerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, Rene; Bodamer, Olaf A.; Baumgartner, Matthias R.; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B.; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Buergi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P.; Superti-Furga, Andrea; Schwab, Karl Otfried und Sass, Joern Oliver (2013): Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. In: Orphanet Journal of Rare Diseases 8:6 [PDF, 840kB]

Mütze, Ulrike; Beblo, Skadi; Kortz, Linda; Matthies, Claudia; Koletzko, Berthold; Bruegel, Mathias; Rohde, Carmen; Thiery, Joachim; Kiess, Wieland und Ceglarek, Uta (2012): Metabolomics of dietary fatty acid restriction in patients with phenylketonuria.
In: PLOS ONE 7(8), e43021 [PDF, 359kB]

Koletzko, Berthold; Beblo, Skadi; Demmelmair, Hans und Hanebutt, Fabienne L. (2009): Omega-3 LC-PUFA supply and neurological outcomes in children with phenylketonuria (PKU). In: Journal of pediatric gastroenterology and nutrition, Bd. 48 Suppl 1: S2-7

Koletzko, Berthold; Beblo, Skadi; Demmelmair, Hans; Müller-Felber, Wolfgang und Hanebutt, Fabienne L. (2009): Does dietary DHA improve neural function in children? Observations in phenylketonuria. In: Prostaglandins, leukotrienes, and essential fatty acids, Bd. 81, Nr. 2-3: S. 159-164

Beblo, Skadi; Reinhardt, Hannes; Demmelmair, Hans; Muntau, Ania C. und Koletzko, Berthold (2007): Effect of fish oil supplementation on fatty acid status, coordination, and fine motor skills in children with phenylketonuria. In: Journal of pediatrics, Bd. 150, Nr. 5: S. 479-484

Beblo, Skadi; Reinhardt, Hannes; Muntau, Ania C.; Müller-Felber, Wolfgang; Roscher, Adelbert A. und Koletzko, Berthold (2001): Fish oil supplementation improves visual evoked potentials in children with phenylketonuria. In: Neurology, Bd. 57, Nr. 8: S. 1488-1491

Diese Liste wurde am Sat Mar 23 22:09:59 2024 CET erstellt.