Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency
Luciani, Alessandro, Schumann, Anke, Berquez, Marine, Chen, Zhiyong, Nieri, Daniela, Failli, Mario, Debaix, Huguette, Festa, Beatrice Paola, Tokonami, Natsuko, Raimondi, Andrea, Cremonesi, Alessio, Carrella, Diego, Forny, Patrick, Kölker, Stefan, Diomedi Camassei, Francesca, Diaz, Francisca, Moraes, Carlos T., Di Bernardo, Diego, Baumgartner, Matthias R., Devuyst, Olivier
Published in Nature communications (20.02.2020)
Published in Nature communications (20.02.2020)
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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis
Boy, Nikolas, Mengler, Katharina, Heringer-Seifert, Jana, Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan
Published in Genetics in medicine (01.01.2021)
Published in Genetics in medicine (01.01.2021)
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A cross-sectional quantitative analysis of the natural history of Farber disease: an ultra-orphan condition with rheumatologic and neurological cardinal disease features
Zielonka, Matthias, Garbade, Sven F, Kölker, Stefan, Hoffmann, Georg F, Ries, Markus
Published in Genetics in medicine (01.05.2018)
Published in Genetics in medicine (01.05.2018)
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Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases
Komatsuzaki, Shoko, Zielonka, Matthias, Mountford, William K., Kölker, Stefan, Hoffmann, Georg F., Garbade, Sven F., Ries, Markus
Published in Genetics in medicine (01.10.2019)
Published in Genetics in medicine (01.10.2019)
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Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data
Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Safety and efficacy of mTOR inhibitor treatment in patients with tuberous sclerosis complex under 2 years of age - a multicenter retrospective study
Saffari, Afshin, Brösse, 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, Kölker, Stefan, Wagner, Robert, Witt, Olaf, Merkenschlager, Andreas, Möckel, Andreas, Roser, Timo, Schlump, Jan-Ulrich, Serfling, Antje, Spiegler, Juliane, Milde, Till, Ziegler, Andreas, Syrbe, Steffen
Published in Orphanet journal of rare diseases (03.05.2019)
Published in Orphanet journal of rare diseases (03.05.2019)
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Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
Burgard, Peter, Kölker, Stefan, Haege, Gisela, Lindner, Martin, Hoffmann, Georg F.
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex
Ebrahimi-Fakhari, Darius, Saffari, Afshin, Wahlster, Lara, Di Nardo, Alessia, Turner, Daria, Lewis, Tommy L., Conrad, Christopher, Rothberg, Jonathan M., Lipton, Jonathan O., Kölker, Stefan, Hoffmann, Georg F., Han, Min-Joon, Polleux, Franck, Sahin, Mustafa
Published in Cell reports (Cambridge) (18.10.2016)
Published in Cell reports (Cambridge) (18.10.2016)
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Newborn screening: A disease‐changing intervention for glutaric aciduria type 1
Boy, Nikolas, Mengler, Katharina, Thimm, Eva, Schiergens, Katharina A., Marquardt, Thorsten, Weinhold, Natalie, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Vossbeck, Judith, Steinfeld, Robert, Baumgartner, Matthias R., Beblo, Skadi, Dieckmann, Andrea, Näke, Andrea, Lindner, Martin, Heringer, Jana, Hoffmann, Georg F., Mühlhausen, Chris, Maier, Esther M., Ensenauer, Regina, Garbade, Sven F., Kölker, Stefan
Published in Annals of neurology (01.05.2018)
Published in Annals of neurology (01.05.2018)
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Journal Article
Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C. S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia‐Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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Simultaneous determination of 3-hydroxypropionic acid, methylmalonic acid and methylcitric acid in dried blood spots: Second-tier LC-MS/MS assay for newborn screening of propionic acidemia, methylmalonic acidemias and combined remethylation disorders
Monostori, Péter, Klinke, Glynis, Richter, Sylvia, Baráth, Ákos, Fingerhut, Ralph, Baumgartner, Matthias R, Kölker, Stefan, Hoffmann, Georg F, Gramer, Gwendolyn, Okun, Jürgen G
Published in PloS one (15.09.2017)
Published in PloS one (15.09.2017)
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Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)
HÖRSTER, Friederike, BAUMGARTNER, Matthias R, VIARDOT, Caroline, SUORMALA, Terttu, BURGARD, Peter, FOWLER, Brian, HOFFMANN, Georg F, GARBADE, Sven F, KOLKER, Stefan, BAUMGARTNER, E. Regula
Published in Pediatric research (01.08.2007)
Published in Pediatric research (01.08.2007)
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Genetic landscape of pediatric acute liver failure of indeterminate origin
Lenz, Dominic, Schlieben, Lea D, Shimura, Masaru, Bianzano, Alyssa, Smirnov, Dmitrii, Kopajtich, Robert, Berutti, Riccardo, Adam, Rüdiger, Aldrian, Denise, Baric, Ivo, Baumann, Ulrich, Bozbulut, Neslihan E, Brugger, Melanie, Brunet, Theresa, Bufler, Philip, Burnytė, Birutė, Calvo, Pier L, Crushell, Ellen, Dalgiç, Buket, Das, Anibh M, Dezsőfi, 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, Kirsaçlioğlu, Ceyda T, Knoppke, Birgit, Kohl, Martina, Kölbel, Heike, Kölker, Stefan, Konstantopoulou, Vassiliki, Krylova, Tatiana, Kuloğlu, 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, Müller, Hanna, Pasquier, Laurent, Pavlov, Martin, Pechatnikova, Natalia, Peters, Bianca, Petković Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Pilic, Denisa, Rajwal, Sanjay, Rock, Nathalie, Roetig, Agnès, Santer, René, 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
Published in Hepatology (Baltimore, Md.) (01.05.2024)
Published in Hepatology (Baltimore, Md.) (01.05.2024)
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