Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision
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.
Published in Journal of inherited metabolic disease (01.05.2021)
Published in Journal of inherited metabolic disease (01.05.2021)
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Journal Article
Guidelines for diagnosis and management of the cobalamin-related remethylation disorders cblC, cblD, cblE, cblF, cblG, cblJ and MTHFR deficiency
Huemer, Martina, Diodato, Daria, Schwahn, Bernd, Schiff, Manuel, Bandeira, Anabela, Benoist, Jean-Francois, Burlina, Alberto, Cerone, Roberto, Couce, Maria L., Garcia-Cazorla, Angeles, la Marca, Giancarlo, Pasquini, Elisabetta, Vilarinho, Laura, Weisfeld-Adams, James D., Kožich, Viktor, Blom, Henk, Baumgartner, Matthias R., Dionisi-Vici, Carlo
Published in Journal of inherited metabolic disease (01.01.2017)
Published in Journal of inherited metabolic disease (01.01.2017)
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Journal Article
A systematic review of moral reasons on orphan drug reimbursement
Zimmermann, Bettina M, Eichinger, Johanna, Baumgartner, Matthias R
Published in Orphanet journal of rare diseases (30.06.2021)
Published in Orphanet journal of rare diseases (30.06.2021)
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Journal Article
Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia
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
Published in Orphanet journal of rare diseases (02.09.2014)
Published in Orphanet journal of rare diseases (02.09.2014)
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Journal Article
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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Journal Article
Structural basis for the regulation of human 5,10-methylenetetrahydrofolate reductase by phosphorylation and S-adenosylmethionine inhibition
Froese, D. Sean, Kopec, Jolanta, Rembeza, Elzbieta, Bezerra, Gustavo Arruda, Oberholzer, Anselm Erich, Suormala, Terttu, Lutz, Seraina, Chalk, Rod, Borkowska, Oktawia, Baumgartner, Matthias R., Yue, Wyatt W.
Published in Nature communications (11.06.2018)
Published in Nature communications (11.06.2018)
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Journal Article
Sarcopenia: Its assessment, etiology, pathogenesis, consequences and future perspectives
Rolland, Y., Czerwinski, S., van Kan, G. Abellan, Morley, J. E., Cesari, M., Onder, G., Woo, J., Baumgartner, R., Pillard, F., Boirie, Y., Chumlea, W. M. C., Vellas, B.
Published in The Journal of nutrition, health & aging (01.08.2008)
Published in The Journal of nutrition, health & aging (01.08.2008)
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Journal Article
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Cognitive dysfunctions in recreational and dependent cocaine users: role of attention-deficit hyperactivity disorder, craving and early age at onset
Vonmoos, Matthias, Hulka, Lea M., Preller, Katrin H., Jenni, Daniela, Baumgartner, Markus R., Stohler, Rudolf, Bolla, Karen I., Quednow, Boris B.
Published in British journal of psychiatry (01.07.2013)
Published in British journal of psychiatry (01.07.2013)
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Journal Article
(Un)targeted hair metabolomics: first considerations and systematic evaluation on the impact of sample preparation
Eisenbeiss, Lisa, Steuer, Andrea E., Binz, Tina M., Baumgartner, Markus R., Kraemer, Thomas
Published in Analytical and bioanalytical chemistry (01.07.2019)
Published in Analytical and bioanalytical chemistry (01.07.2019)
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Journal Article
Newborn screening for homocystinurias and methylation disorders: systematic review and proposed guidelines
Huemer, Martina, Kožich, Viktor, Rinaldo, Piero, Baumgartner, Matthias R., Merinero, Begoña, Pasquini, Elisabetta, Ribes, Antonia, Blom, Henk J.
Published in Journal of Inherited Metabolic Disease (01.11.2015)
Published in Journal of Inherited Metabolic Disease (01.11.2015)
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Journal Article
Book Review
Mutation Update and Review of Severe Methylenetetrahydrofolate Reductase Deficiency
Froese, D. Sean, Huemer, Martina, Suormala, Terttu, Burda, Patricie, Coelho, David, Guéant, Jean-Louis, Landolt, Markus A., Kožich, Viktor, Fowler, Brian, Baumgartner, Matthias R.
Published in Human mutation (01.05.2016)
Published in Human mutation (01.05.2016)
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Journal Article
Ischaemic stroke in young adults: predictors of outcome and recurrence
Nedeltchev, K, der Maur, T A, Georgiadis, D, Arnold, M, Caso, V, Mattle, H P, Schroth, G, Remonda, L, Sturzenegger, M, Fischer, U, Baumgartner, R W
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2005)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2005)
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Journal Article
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
A Novel, Blocking, Fc‐Silent Anti‐CD40 Monoclonal Antibody Prolongs Nonhuman Primate Renal Allograft Survival in the Absence of B Cell Depletion
Cordoba, F., Wieczorek, G., Audet, M., Roth, L., Schneider, M. A., Kunkler, A., Stuber, N., Erard, M., Ceci, M., Baumgartner, R., Apolloni, R., Cattini, A., Robert, G., Ristig, D., Munz, J., Haeberli, L., Grau, R., Sickert, D., Heusser, C., Espie, P., Bruns, C., Patel, D., Rush, J. S.
Published in American journal of transplantation (01.11.2015)
Published in American journal of transplantation (01.11.2015)
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