Not logged inDoes hyperphenylalaninemia induce brain glucose hypometabolism? Cerebral spinal fluid findings in treated adult phenylketonuric patients
Trefz, Friedrich; Frauendienst-Egger, Georg; Dienel, Gerald; Cannet, Claire; Schmidt-Mader, Brigitte; Haas, Dorothea; Blau, Nenad; Himmelreich, Nastassja; Spraul, Manfred; Freisinger, Peter; Dobrowolski, Steven; Berg, Daniela; Pilotto, Andrea .png)
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SaveImpact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated diseaseHammann, Nicole; Lenz, Dominic; Baric, Ivo; Crushell, Ellen; Vici, Carlo Dionisi; Distelmaier, Felix; Feillet, Francois; Freisinger, Peter; Hempel, Maja; Khoreva, Anna L.; Laass, Martin W.; Lacassie, Yves; Lainka, Elke; Larson-Nath, Catherine; Li, Zhongdie; Lipinski, Patryk; Lurz, Eberhard; Megarbane, Andre; Nobre, Susana; Olivieri, Giorgia; Peters, Bianca; Prontera, Paolo; Schlieben, Lea D.; Seroogy, Christine M.; Sobacchi, Cristina; Suzuki, Shigeru; Tran, Christel; Vockley, Jerry; Wang, Jian-She; Wagner, Matias; Prokisch, Holger; Garbade, Sven F.; Kolker, Stefan; Hoffmann, Georg F.; Staufner, Christian Share Save Neurological outcome in long-chain hydroxy fatty acid oxidation disordersMuetze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M.; Lindner, Martin; Husain, Ralf A.; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, Rene; Thimm, Eva; vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B.; Hoerbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F.; Garbade, Sven F.; Gruenert, Sarah C.; Koelker, Stefan Share Save Genetic landscape of pediatric acute liver failure of indeterminate originLenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger Share Save Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR AnalysisCannet, Claire; Bayat, Allan; Frauendienst-Egger, Georg; Freisinger, Peter; Spraul, Manfred; Himmelreich, Nastassja; Kockaya, Musa; Ahring, Kirsten; Godejohann, Markus; MacDonald, Anita; Trefz, Friedrich Share Save Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate CarrierBolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger; Wortmann, Saskia B. Share Save Share Save DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndromeStenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank; Prokisch, Holger Share Save Variants in Mitochondrial ATP Synthase Cause Variable Neurologic PhenotypesZech, Michael; Kopajtich, Robert; Steinbruecker, Katja; Bris, Celine; Gueguen, Naig; Feichtinger, Rene G.; Achleitner, Melanie T.; Duzkale, Neslihan; Perivier, Maximilien; Koch, Johannes; Engelhardt, Harald; Freisinger, Peter; Wagner, Matias; Brunet, Theresa; Berutti, Riccardo; Smirnov, Dmitrii; Navaratnarajah, Tharsini; Rodenburg, Richard J. T.; Pais, Lynn S.; Austin-Tse, Christina; O'Leary, Melanie; Boesch, Sylvia; Jech, Robert; Bakhtiari, Somayeh; Jin, Sheng Chih; Wilbert, Friederike; Kruer, Michael C.; Wortmann, Saskia B.; Eckenweiler, Matthias; Mayr, Johannes A.; Distelmaier, Felix; Steinfeld, Robert; Winkelmann, Juliane; Prokisch, Holger Share Save Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNAKey, Jana; Torres-Odio, Sylvia; Bach, Nina C.; Gispert, Suzana; Koepf, Gabriele; Reichlmeir, Marina; West, A. Phillip; Prokisch, Holger; Freisinger, Peter; Newman, William G.; Shalev, Stavit; Sieber, Stephan A.; Wittig, Ilka; Auburger, Georg Share Save The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study (vol 11, 19300, 2021)Martner, E. M. Charlotte; Thimm, Eva; Guder, Philipp; Schiergens, Katharina A.; Rutsch, Frank; Roloff, Sylvia; Marquardt, Iris; Das, Anibh M.; Freisinger, Peter; Grunert, Sarah C.; Kramer, Johannes; Baumgartner, Matthias R.; Beblo, Skadi; Haase, Claudia; Dieckmann, Andrea; Lindner, Martin; Nake, Andrea; Hoffmann, Georg F.; Muhlhausen, Chris; Walter, Magdalena; Garbade, Sven F.; Maier, Esther M.; Kolker, Stefan; Boy, Nikolas Share Save The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up studyMaertner, 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; Boy, Nikolas Share Save Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at <4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trialMuntau, Ania C.; Burlina, Alberto; Eyskens, Francois; Freisinger, Peter; Leuzzi, Vincenzo; Sivri, Hatice Serap; Gramer, Gwendolyn; Pazdirkova, Renata; Cleary, Maureen; Lotz-Havla, Amelia S.; Lane, Paul; Alvarez, Ignacio; Rutsch, Frank Share Save The neurological and neuropsychiatric spectrum of adults with late-treated phenylketonuriaMainka, Tina; Fischer, Jan-Frederik; Huebl, Julius; Jung, Alexandra; Lier, Dinah; Mosejova, Alexandra; Skorvanek, Matej; de Koning, Tom J.; Kuehn, Andrea A.; Freisinger, Peter; Ziagaki, Athanasia; Ganos, Christos Share Save Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ...Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; van der Ven, Amelie T.; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino, V; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas; Wittig, Ilka; Prokisch, Holger Share Save Phenylalanine Effects on Brain Function in Adult PhenylketonuriaPilotto, Andrea; Zipser, Carl M.; Leks, Edytha; Haas, Dorothea; Gramer, Gwendolyn; Freisinger, Peter; Schaeffer, Eva; Liepelt-Scarfone, Inga; Brockmann, Kathrin; Maetzler, Walter; Schulte, Claudia; Deuschle, Christian; Hauser, Ann Kathrin; Hoffmann, Georg F.; Scheffler, Klaus; van Spronsen, Francjan J.; Padovani, Alessandro; Trefz, Friedrich; Berg, Daniela Share Save Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical OutcomeBarhold, 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; van Teeffelen-Heithoff, Agnes; Lahl, Janina; Das, Anibh Martin Share Save Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn ScreeningMuetze, Ulrike; Garbade, Sven F.; Gramer, Gwendolyn; Lindner, Martin; Freisinger, Peter; Gruenert, Sarah Catharina; Hennermann, Julia; Ensenauer, Regina; Thimm, Eva; Zirnbauer, Judith; Leichsenring, Michael; Gleich, Florian; Hoerster, Friederike; Grohmann-Held, Karina; Boy, Nikolas; Fang-Hoffmann, Junmin; Burgard, Peter; Walter, Magdalena; Hoffmann, Georg F.; Koelker, Stefan Share Save Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa (vol 100, pg 216, 2017)Van Damme, Tim; Gardeitchik, Thatjana; Mohamed, Miski; Guerrero-Castillo, Sergio; Freisinger, Peter; Guillemyn, Brecht; Kariminejad, Ariana; Dalloyaux, Daisy; van Kraaij, Sanne; Lefeber, Dirk J.; Syx, Delfien; Steyaert, Wouter; De Rycke, Riet; Hoischen, Alexander; Kamsteeg, Erik-Jan; Wong, Sunnie Y.; van Scherpenzeel, Monique; Jamali, Payman; Brandt, Ulrich; Nijtmans, Leo; Korenke, G. Christoph; Chung, Brian H. Y.; Mak, Christopher C. Y.; Hausser, Ingrid; Kornak, Uwe; Fischer-Zirnsak, Bjorn; Strom, Tim M.; Meitinger, Thomas; Alanay, Yasemin; Utine, Gulen E.; Leung, Kai Ching Peter; Ghaderi-Sohi, Siavash; Coucke, Paul; Symoens, Sofie; De Paepe, Anne; Thiel, Christian; Haack, Tobias B.; Malfait, Fransiska; Morava, Eva; Callewaert, Bert; Wevers, Ron A. Share Save Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigationCannet, Claire; Pilotto, Andrea; Rocha, Julio Cesar; Schaefer, Hartmut; Spraul, Manfred; Berg, Daniela; Nawroth, Peter; Kasperk, Christian; Gramer, Gwendolyn; Haas, Dorothea; Piel, David; Koelker, Stefan; Hoffmann, Georg; Freisinger, Peter; Trefz, Friedrich Share Save 
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