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Springe zu: Zeitschriftenartikel
Anzahl der Publikationen: 11
Zeitschriftenartikel
Grohmann-Held, Karina; Burgard, Peter; Baerwald, Christoph G. O.; Beblo, Skadi; Vom Dahl, Stephan; Das, Anibh; Dokoupil, Katharina; Fleissner, Sandra; Freisinger, Peter; Heddrich-Ellerbrok, Margret; Jung, Alexandra; Korpel, Vanessa; Kraemer, Johannes; Lier, Dinah; Maier, Esther M.; Meyer, Uta; Muehlhausen, Chris; Newger, Martha; Och, Ulrike; Ploeckinger, Ursula; Rosenbaum-Fabian, Stefanie; Rutsch, Frank; Santer, Rene; Schick, Petra; Schwarz, Martin; Spiekerkoetter, Ute; Strittmatter, Ursula; Thiele, Alena G.; Ziagaki, Athanasia; Muetze, Ulrike; Gleich, Florian; Garbade, Sven F. und Koelker, Stefan
(2022):
Impact of pregnancy planning and preconceptual dietary training on metabolic control and offspring's outcome in phenylketonuria.
In: Journal of Inherited Metabolic Disease, Bd. 45, Nr. 6: S. 1070-1081
Boy, Nikolas; Muehlhausen, Chris; Maier, Esther M.; Ballhausen, Diana; Baumgartner, Matthias R.; Beblo, Skadi; Burgard, Peter; Chapman, Kimberly A.; Dobbelaere, Dries; Heringer-Seifert, Jana; Fleissner, Sandra; Grohmann-Held, Karina; Hahn, Gabriele; Harting, Inga; Hoffmann, Georg F.; Jochum, Frank; Karall, Daniela; Konstantopoulous, Vassiliki; Krawinkel, Michael B.; Lindner, Martin; Maertner, E. M. Charlotte; Nuoffer, Jean-Marc; Okun, Jürgen G.; Plecko, Barbara; Posset, Roland; Sahm, Katja; Scholl-Buergi, Sabine; Thimm, Eva; Walter, Magdalena; Williams, Monique; Vom Dahl, Stephan; Ziagaki, Athanasia; Zschocke, Johannes und Koelker, Stefan
(2022):
Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision.
In: Journal of Inherited Metabolic Disease, Bd. 46, Nr. 3: S. 482-519
Lenz, Dominic; Pahl, Jens; Hauck, Fabian; Alameer, Seham; Balasubramanian, Meena; Baric, Ivo; Boy, Nikolas; Church, Joseph A.; Crushell, Ellen; Dick, Anke; Distelmaier, Felix; Gujar, Jidnyasa; Indolfi, Giuseppe; Lurz, Eberhard; Peters, Bianca; Schwerd, Tobias; Serranti, Daniele; Koelker, Stefan; Klein, Christoph; Hoffmann, Georg F.; Prokisch, Holger; Greil, Johann; Cerwenka, Adelheid; Giese, Thomas und Staufner, Christian
(2021):
NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency.
In: Journal of Clinical Immunology, Bd. 41, Nr. 8: S. 1781-1793
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
Staufner, Christian; Peters, Bianca; Wagner, Matias; Alameer, Seham; Baric, Ivo; Broue, Pierre; Bulut, Derya; Church, Joseph A.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dick, Anke; Dikow, Nicola; Dionisi-Vici, Carlo; Distelmaier, Felix; Bozbulut, Neslihan Eksi; Feillet, Francois; Gonzales, Emmanuel; Hadzic, Nedim; Hauck, Fabian; Hegarty, Robert; Hempel, Maja; Herget, Theresia; Klein, Christoph; Konstantopoulou, Vassiliki; Kopajtich, Robert; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Larson-Nath, Catherine; Leibner, Alexander; Lurz, Eberhard; Mayr, Johannes A.; McKiernan, Patrick; Mention, Karine; Moog, Ute; Mungan, Neslihan Onenli; Riedhammer, Korbinian M.; Santer, Rene; Palafoll, Irene Valenzuela; Vockley, Jerry; Westphal, Dominik S.; Wiedemann, Arnaud; Wortmann, Saskia B.; Diwan, Gaurav D.; Russell, Robert B.; Prokisch, Holger; Garbade, Sven F.; Koelker, Stefan; Hoffmann, Georg F. und Lenz, Dominic
(2020):
Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients.
In: Genetics in Medicine, Bd. 22, Nr. 3: S. 610-621
Ebrahimi-Fakhari, Darius; Teinert, Julian; Behne, Robert; Wimmer, Miriam; D'Amore, Angelica; Eberhardt, Kathrin; Brechmann, Barbara; Ziegler, Marvin; Jensen, Dana M.; Nagabhyrava, Premsai; Geisel, Gregory; Carmody, Erin; Shamshad, Uzma; Dies, Kira A.; Yuskaitis, Christopher J.; Salussolia, Catherine L.; Ebrahimi-Fakhari, Daniel; Pearson, Toni S.; Saffari, Afshin; Ziegler, Andreas; Koelker, Stefan; Volkmann, Jens; Wiesener, Antje; Bearden, David R.; Lakhani, Shenela; Segal, Devorah; Udwadia-Hegde, Anaita; Martinuzzi, Andrea; Hirst, Jennifer; Perlman, Seth; Takiyama, Yoshihisa; Xiromerisiou, Georgia; Vill, Katharina; Walker, William O.; Shukla, Anju; Gupta, Rachana Dubey; Dahl, Niklas; Aksoy, Ayse; Verhelst, Helene; Delgado, Mauricio R.; Pourova, Radka Kremlikova; Sadek, Abdelrahim A.; Elkhateeb, Nour M.; Blumkin, Lubov; Brea-Fernandez, Alejandro J.; Dacruz-Alvarez, David; Smol, Thomas; Ghoumid, Jamal; Miguel, Diego; Heine, Constanze; Schlump, Jan-Ulrich; Langen, Hendrik; Baets, Jonathan; Bulk, Saskia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Lim-Melia, Elizabeth; Aydinli, Nur; Alanay, Yasemin; El-Rashidy, Omnia; Nampoothiri, Sheela; Patel, Chirag; Beetz, Christian; Bauer, Peter; Yoon, Grace; Guillot, Mireille; Miller, Steven P.; Bourinaris, Thomas; Houlden, Henry; Robelin, Laura; Anheim, Mathieu; Alamri, Abdullah S.; Mahmoud, Adel A. H.; Inaloo, Soroor; Habibzadeh, Parham; Faghihi, Mohammad Ali; Jansen, Anna C.; Brock, Stefanie; Roubertie, Agathe; Darras, Basil T.; Agrawal, Pankaj B.; Santorelli, Filippo M.; Gleeson, Joseph; Zaki, Maha S.; Sheikh, Sarah; Bennett, James T. und Sahin, Mustafa
(2020):
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia.
In: Brain, Bd. 143: S. 2929-2944
Doering, Jan Henje; Saffari, Afshin; Bast, Thomas; Brockmann, Knut; Ehrhardt, Laura; Fazeli, Walid; Janzarik, Wibke G.; Kluger, Gerhard; Muhle, Hiltrud; Moller, Rikke S.; Platzer, Konrad; Santos, Joana Larupa; Bache, Iben; Bertsche, Astrid; Bonfert, Michaela; Borggraefe, Ingo; Broser, Philip J.; Datta, Alexandre N.; Hammer, Trine Bjorg; Hartmann, Hans; Hasse-Wittmer, Anette; Henneke, Marco; Kuehne, Hermann; Lemke, Johannes R.; Maier, Oliver; Matzker, Eva; Merkenschlager, Andreas; Opp, Joachim; Patzer, Steffi; Rostasy, Kevin; Stark, Birgit; Strzelczyk, Adam; Stülpnagel, Celina von; Weber, Yvonne; Wolff, Markus; Zirn, Birgit; Hoffmann, Georg Friedrich; Koelker, Stefan und Syrbe, Steffen
(2020):
The Phenotypic Spectrum of PRRT2-Associated Paroxysmal Neurologic Disorders in Childhood.
In: Biomedicines, Bd. 8, Nr. 11, 456
Saffari, Afshin; Broesse, Ines; Wiemer-Kruel, Adelheid; Wilken, Bernd; Kreuzaler, Paula; Hahn, Andreas; Bernhard, Matthias K.; van Tilburg, Cornelis M.; Hoffmann, Georg F.; Gorenflo, Matthias; Hethey, Sven; Kaiser, Olaf; Koelker, Stefan; Wagner, Robert; Witt, Olaf; Merkenschlager, Andreas; Moeckel, Andreas; Roser, Timo; Schlump, Jan-Ulrich; Serfling, Antje; Spiegler, Juliane; Milde, Till; Ziegler, Andreas und Syrbe, Steffen
(2019):
Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study.
In: Orphanet Journal of Rare Diseases, Bd. 14, UNSP 96
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