Metabolism of amino acid neurotransmitters: the synaptic disorder underlying inherited metabolic diseases von Kölker, Stefan

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Impaired mitophagy links mitochondrial disease to epithelial stress in methylmalonyl-CoA mutase deficiency von 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

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Rare Disease Registries Are Key to Evidence-Based Personalized Medicine: Highlighting the European Experience von Kölker, Stefan, Gleich, Florian, Mütze, Ulrike, Opladen, Thomas

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Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis von Boy, Nikolas, Mengler, Katharina, Heringer-Seifert, Jana, Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan

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Liver and/or kidney transplantation in amino and organic acid‐related inborn errors of metabolism: An overview on European data von Molema, Femke, Martinelli, Diego, Hörster, Friederike, Kölker, Stefan, Tangeraas, Trine, Koning, Barbara, Dionisi‐Vici, Carlo, Williams, Monique

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Linking mitochondrial dysfunction to neurodegeneration in lysosomal storage diseases von Saffari, Afshin, Kölker, Stefan, Hoffmann, Georg F., Ebrahimi-Fakhari, Darius

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Clinical characteristics of 248 patients with Krabbe disease: quantitative natural history modeling based on published cases von Komatsuzaki, Shoko, Zielonka, Matthias, Mountford, William K., Kölker, Stefan, Hoffmann, Georg F., Garbade, Sven F., Ries, Markus

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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 von 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

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How longitudinal observational studies can guide screening strategy for rare diseases von Mütze, Ulrike, Mengler, Katharina, Boy, Nikolas, Gleich, Florian, Opladen, Thomas, Garbade, Sven F., Kölker, Stefan

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FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis von Garbade, Sven F., Zielonka, Matthias, Mechler, Konstantin, Koelker, Stefan, Hoffmann, Georg F., Staufner, Christian, Mengel, Eugen, Ries, Markus

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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 3... von Burgard, Peter, Kölker, Stefan, Haege, Gisela, Lindner, Martin, Hoffmann, Georg F.

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Impaired Mitochondrial Dynamics and Mitophagy in Neuronal Models of Tuberous Sclerosis Complex von 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

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Newborn screening: A disease‐changing intervention for glutaric aciduria type 1 von 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

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Pharmacologic rescue of hyperammonemia-induced toxicity in zebrafish by inhibition of ornithine aminotransferase von Zielonka, Matthias, Breuer, Maximilian, Okun, Jürgen Günther, Carl, Matthias, Hoffmann, Georg Friedrich, Kölker, Stefan

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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... von Monostori, Péter, Klinke, Glynis, Richter, Sylvia, Baráth, Ákos, Fingerhut, Ralph, Baumgartner, Matthias R, Kölker, Stefan, Hoffmann, Georg F, Gramer, Gwendolyn, Okun, Jürgen G

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ADP-dependent glucokinase as a novel onco-target for haematological malignancies von Tandon, Amol, Birkenhagen, Jana, Nagalla, Deepthi, Kölker, Stefan, Sauer, Sven Wolfgang

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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders von 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

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The impact of metabolic stressors on mitochondrial homeostasis in a renal epithelial cell model of methylmalonic aciduria von Schumann, Anke, Brutsche, Marion, Havermans, Monique, Grünert, Sarah C., Kölker, Stefan, Groß, Olaf, Hannibal, Luciana, Spiekerkoetter, Ute

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Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies von Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen

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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 von Zielonka, Matthias, Garbade, Sven F, Kölker, Stefan, Hoffmann, Georg F, Ries, Markus

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