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

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Organic acidurias: Ingredients for precision medicine von Kölker, Stefan, Baumgartner, Matthias R.

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Evaluation and optimization of newborn screening by structured long-term follow-up-using the example of inherited metabolic diseases von Mütze, Ulrike, Kölker, Stefan

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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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Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real‐world data von Yuan, Yuheng, Dimitrov, Bianca, Boy, Nikolas, Gleich, Florian, Zielonka, Matthias, Kölker, Stefan

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The incidence of urea cycle disorders von Summar, Marshall L., Koelker, Stefan, Freedenberg, Debra, Le Mons, Cynthia, Haberle, Johannes, Lee, Hye-Seung, Kirmse, Brian

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Delineating the clinical spectrum of isolated methylmalonic acidurias:cblAandmut von Hoerster, Friederike, Tuncel, Ali Tunc, Gleich, Florian, Plessl, Tanja, Froese, Sean D., Garbade, Sven F., Koelker, Stefan, Baumgartner, Matthias R.

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Organic acidurias: Major gaps, new challenges, and a yet unfulfilled promise von Dimitrov, Bianca, Molema, Femke, Williams, Monique, Schmiesing, Jessica, Mühlhausen, Chris, Baumgartner, Matthias R., Schumann, Anke, Kölker, Stefan

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Genomic newborn screening: Proposal of a two‐stage approach von Schaaf, Christian P., Kölker, Stefan, Hoffmann, Georg F.

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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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Long-term Outcomes of Individuals With Metabolic Diseases Identified Through Newborn Screening von Muetze, 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

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Quantitative clinical characteristics of 53 patients with MPS VII: a cross-sectional analysis von Zielonka, Matthias, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Ries, Markus

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Ultra‐orphan lysosomal storage diseases: A cross‐sectional quantitative analysis of the natural history of alpha‐mannosidosis von Zielonka, Matthias, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Ries, Markus

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Personalized metabolic whole-body models for newborns and infants predict growth and biomarkers of inherited metabolic diseases von Zaunseder, Elaine, Mütze, Ulrike, Okun, Jürgen G., Hoffmann, Georg F., Kölker, Stefan, Heuveline, Vincent, Thiele, Ines

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Bioenergetic dysfunction in a zebrafish model of acute hyperammonemic decompensation von Zielonka, Matthias, Probst, Joris, Carl, Matthias, Hoffmann, Georg Friedrich, Kölker, Stefan, Okun, Jürgen Günther

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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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The challenge of understanding and predicting phenotypic diversity in urea cycle disorders von Posset, Roland, Zielonka, Matthias, Gleich, Florian, Garbade, Sven F, Hoffmann, Georg F, Kölker, Stefan

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Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: second revision von Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Heringer, Jana, Assmann, Birgit, Burgard, Peter, Dixon, Marjorie, Fleissner, Sandra, Greenberg, Cheryl R., Harting, Inga, Hoffmann, Georg F., Karall, Daniela, Koeller, David M., Krawinkel, Michael B., Okun, Jürgen G., Opladen, Thomas, Posset, Roland, Sahm, Katja, Zschocke, Johannes, Kölker, Stefan

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Cross-sectional quantitative analysis of the natural history ofTUBA1AandTUBB2Btubulinopathies von Schroeter, Julian, Doering, Jan H., Garbade, Sven F., Hoffmann, Georg F., Koelker, Stefan, Ries, Markus, Syrbe, Steffen

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How guideline development has informed clinical research for organic acidurias (et vice versa) von Forny, Patrick, Hörster, Friederike, Baumgartner, Matthias R., Kölker, Stefan, Boy, Nikolas

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