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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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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Expanding the clinical and genetic spectrum of CAD deficiency: an epileptic encephalopathy treatable with uridine supplementation von Rymen, Daisy, Lindhout, Martijn, Spanou, Maria, Ashrafzadeh, Farah, Benkel, Ira, Betzler, Cornelia, Coubes, Christine, Hartmann, Hans, Kaplan, Julie D., Ballhausen, Diana, Koch, Johannes, Lotte, Jan, Mohammadi, Mohammad Hasan, Rohrbach, Marianne, Dinopoulos, Argirios, Wermuth, Marieke, Willis, Daniel, Brugger, Karin, Wevers, Ron A., Boltshauser, Eugen, Bierau, Jörgen, Mayr, Johannes A., Wortmann, Saskia B.

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NBAS mutations cause a multisystem disorder involving bone, connective tissue, liver, immune system, and retina von Segarra, Nuria Garcia, Ballhausen, Diana, Crawford, Heather, Perreau, Matthieu, Campos-Xavier, Belinda, van Spaendonck-Zwarts, Karin, Vermeer, Cees, Russo, Michel, Zambelli, Pierre-Yves, Stevenson, Brian, Royer-Bertrand, Beryl, Rivolta, Carlo, Candotti, Fabio, Unger, Sheila, Munier, Francis L., Superti-Furga, Andrea, Bonafé, Luisa

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Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options von Staufner, Christian, Lindner, Martin, Dionisi-Vici, Carlo, Freisinger, Peter, Dobbelaere, Dries, Douillard, Claire, Makhseed, Nawal, Straub, Beate K., Kahrizi, Kimia, Ballhausen, Diana, la Marca, Giancarlo, Kölker, Stefan, Haas, Dorothea, Hoffmann, Georg F., Grünert, Sarah C., Blom, Henk J.

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Ammonium accumulation and cell death in a rat 3D brain cell model of glutaric aciduria type I von Jafari, Paris, Braissant, Olivier, Zavadakova, Petra, Henry, Hugues, Bonafé, Luisa, Ballhausen, Diana

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The impact of disease severity on the psychological well-being of youth affected by an inborn error of metabolism and their families: A one-year longitudinal study von Dimitrova, Nevena, Glaus, Jennifer, Urben, Sébastien, Wüthrich, Valentine, Morisod Harari, Mathilde, Ballhausen, Diana

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Severe Distal Motor Involvement in a Non-compliant Adult With Biotinidase Deficiency: The Necessity of Life-Long Biotin Therapy von Van Winckel, Geraldine, Ballhausen, Diana, Wolf, Barry, Procter, Melinda, Mao, Rong, Burda, Patricie, Strambo, Davide, Kuntzer, Thierry, Tran, Christel

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Mutations in the Heparan-Sulfate Proteoglycan Glypican 6 (GPC6) Impair Endochondral Ossification and Cause Recessive Omodysplasia von Campos-Xavier, Ana Belinda, Martinet, Danielle, Bateman, John, Belluoccio, Dan, Rowley, Lynn, Tan, Tiong Yang, Baxová, Alica, Gustavson, Karl-Henrik, Borochowitz, Zvi U., Innes, A. Micheil, Unger, Sheila, Beckmann, Jacques S., Mittaz, Lauréane, Ballhausen, Diana, Superti-Furga, Andrea, Savarirayan, Ravi, Bonafé, Luisa

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The fate of orally administered sialic acid: First insights from patients with N-acetylneuraminic acid synthase deficiency and control subjects von Tran, Christel, Turolla, Licia, Ballhausen, Diana, Buros, Sandrine Cornaz, Teav, Tony, Gallart-Ayala, Hector, Ivanisevic, Julijana, Faouzi, Mohamed, Lefeber, Dirk J., Ivanovski, Ivan, Giangiobbe, Sara, Caraffi, Stefano Giuseppe, Garavelli, Livia, Superti-Furga, Andrea

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Brain damage in methylmalonic aciduria: 2-methylcitrate induces cerebral ammonium accumulation and apoptosis in 3D organotypic brain cell cultures von Jafari, Paris, Braissant, Olivier, Zavadakova, Petra, Henry, Hugues, Bonafé, Luisa, Ballhausen, Diana

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Early co-occurrence of a neurologic-psychiatric disease pattern in Niemann-Pick type C disease: a retrospective Swiss cohort study von Abela, Lucia, Plecko, Barbara, Palla, Antonella, Burda, Patricie, Nuoffer, Jean-Marc, Ballhausen, Diana, Rohrbach, Marianne

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Hepatosplenomegaly, pneumopathy, bone changes and fronto-temporal dementia: Niemann–Pick type B and SQSTM1-associated Paget’s disease in the same individual von Voinea, Camelia, Gonzalez Rodriguez, Elena, Beigelman-Aubry, Catherine, Leroy, Victor, Aubry-Rozier, Bérengère, Campos-Xavier, Belinda, Ballhausen, Diana, Lazor, Romain, Barbey, Frédéric, Bonafé, Luisa, Superti-Furga, Andrea, Tran, Christel

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Recurrent Dominant Mutations Affecting Two Adjacent Residues in the Motor Domain of the Monomeric Kinesin KIF22 Result in Skeletal Dysplasia and Joint Laxity von Boyden, Eric D., Campos-Xavier, A. Belinda, Kalamajski, Sebastian, Cameron, Trevor L., Suarez, Philippe, Tanackovich, Goranka, Andria, Generoso, Ballhausen, Diana, Briggs, Michael D., Hartley, Claire, Cohn, Daniel H., Davidson, H. Rosemarie, Hall, Christine, Ikegawa, Shiro, Jouk, Pierre-Simon, König, Rainer, Megarbané, André, Nishimura, Gen, Lachman, Ralph S., Mortier, Geert, Rimoin, David L., Rogers, R. Curtis, Rossi, Massimiliano, Sawada, Hirotake, Scott, Richard, Unger, Sheila, Valadares, Eugenia Ribeiro, Bateman, John F., Warman, Matthew L., Superti-Furga, Andrea, Bonafé, Luisa

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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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Epidemiology of mucopolysaccharidoses von Khan, Shaukat A., Peracha, Hira, Ballhausen, Diana, Wiesbauer, Alfred, Rohrbach, Marianne, Gautschi, Matthias, Mason, Robert W., Giugliani, Roberto, Suzuki, Yasuyuki, Orii, Kenji E., Orii, Tadao, Tomatsu, Shunji

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Inborn errors of metabolism: a specialty at the forefront of precision medicine von Kern, Ilse, Foland, Piotr, Ballhausen, Diana

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Maladies innées du métabolisme : un domaine pionnier de la médecine de précision von Kern, Ilse, Foland, Piotr, Ballhausen, Diana

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Familial X-linked cardiomyopathy (Danon disease) : diagnostic confirmation by mutation analysis of the LAMP2gene von BALMER, Christian, BALLHAUSEN, Diana, BOSSHARD, Nils U, STEINMANN, Beat, BOLTSHAUSER, Eugen, BAUERSFELD, Urs, SUPERTI-FURGA, Andrea

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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision von Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan

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