Impaired ketone body utilisation as a cause of life-threatening ketoacidosis von Sass, Jörn Oliver, Grünert, Sarah C

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mTOR Regulates Endocytosis and Nutrient Transport in Proximal Tubular Cells von Grahammer, Florian, Ramakrishnan, Suresh K, Rinschen, Markus M, Larionov, Alexey A, Syed, Maryam, Khatib, Hazim, Roerden, Malte, Sass, Jörn Oliver, Helmstaedter, Martin, Osenberg, Dorothea, Kühne, Lucas, Kretz, Oliver, Wanner, Nicola, Jouret, Francois, Benzing, Thomas, Artunc, Ferruh, Huber, Tobias B, Theilig, Franziska

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3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces von Grünert, Sarah C, Sass, Jörn Oliver

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Diagnosis of atypical myopathy based on organic acid and acylcarnitine profiles and evolution of biomarkers in surviving horses von Mathis, Déborah, Sass, Jörn Oliver, Graubner, Claudia, Schoster, Angelika

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Biomarkers for drug development in propionic and methylmalonic acidemias von Longo, Nicola, Sass, Jörn Oliver, Jurecka, Agnieszka, Vockley, Jerry

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In memoriam Willy Lehnert von Sass, Jörn Oliver, Skerlienė, Birutė

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Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision von Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

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Ketone body metabolism and its defects von Fukao, Toshiyuki, Mitchell, Grant, Sass, Jörn Oliver, Hori, Tomohiro, Orii, Kenji, Aoyama, Yuka

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Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia von Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam

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Prolonged QTc Intervals and Decreased Left Ventricular Contractility in Patients with Propionic Acidemia von Baumgartner, Daniela, MD, Scholl-Bürgi, Sabine, MD, Sass, Jörn Oliver, Dr. rer. nat, Sperl, Wolfgang, MD, PhD, Schweigmann, Ulrich, MD, Stein, Jörg-Ingolf, MD, Karall, Daniela, MD

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Amino Acids and Inherited Amino Acid-Related Disorders von Knerr, Ina, Bernstein, Laurie, Crushell, Ellen, O’Sullivan, Siobhan, Sass, Jörn Oliver

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Correction to: 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces von Grünert, Sarah C, Sass, Jörn Oliver

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D-glyceric aciduria is caused by genetic deficiency of D-glycerate kinase (GLYCTK) von Sass, Jörn Oliver, Fischer, Kathleen, Wang, Raymond, Christensen, Ernst, Scholl-Bürgi, Sabine, Chang, Richard, Kapelari, Klaus, Walter, Melanie

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2-methylacetoacetyl-coenzyme A thiolase (beta-ketothiolase) deficiency: one disease - two pathways von Grünert, Sarah C, Sass, Jörn Oliver

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Mutations in SELENBP1, encoding a novel human methanethiol oxidase, cause extraoral halitosis von Pol, Arjan, Renkema, G. Herma, Tangerman, Albert, Winkel, Edwin G., Engelke, Udo F., de Brouwer, Arjan P. M., Lloyd, Kent C., Araiza, Renee S., van den Heuvel, Lambert, Omran, Heymut, Olbrich, Heike, Oude Elberink, Marijn, Gilissen, Christian, Rodenburg, Richard J., Sass, Jörn Oliver, Schwab, K. Otfried, Schäfer, Hendrik, Venselaar, Hanka, Sequeira, J. Silvia, Op den Camp, Huub J. M., Wevers, Ron A.

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Consensus guidelines for the diagnosis and management of isolated sulfite oxidase deficiency and molybdenum cofactor deficiencies von Schwahn, Bernd C., Spronsen, Francjan, Misko, Albert, Pavaine, Julija, Holmes, Victoria, Spiegel, Ronen, Schwarz, Guenter, Wong, Flora, Horman, Alistair, Pitt, James, Sass, Jörn Oliver, Lubout, Charlotte

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Mutations in ACY1, the Gene Encoding Aminoacylase 1, Cause a Novel Inborn Error of Metabolism von Sass, Jörn Oliver, Mohr, Verena, Olbrich, Heike, Engelke, Udo, Horvath, Judit, Fliegauf, Manfred, Loges, Niki Tomas, Schweitzer-Krantz, Susanne, Moebus, Ralf, Weiler, Polly, Kispert, Andreas, Superti-Furga, Andrea, Wevers, Ron A., Omran, Heymut

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Inborn errors of ketogenesis and ketone body utilization von Sass, Jörn Oliver

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3‐Hydroxyisobutyrate dehydrogenase (HIBADH) deficiency—A novel disorder of valine metabolism von Meyer, Melanie, Hollenbeck, Jana C., Reunert, Janine, Seelhöfer, Anja, Rust, Stephan, Fobker, Manfred, Biskup, Saskia, Och, Ulrike, Linden, Mechthild, Sass, Jörn Oliver, Marquardt, Thorsten

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Inborn Errors of Ketone Body Metabolism and Transport von Sass, Jörn Oliver, Fukao Toshiyuki, Mitchell, Grant A

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