Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Published in Nature communications (12.06.2017)
Published in Nature communications (12.06.2017)
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Journal Article
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Koch, Johannes, Feichtinger, René G, Freisinger, Peter, Pies, Mechthild, Schrödl, Falk, Iuso, Arcangela, Sperl, Wolfgang, Mayr, Johannes A, Prokisch, Holger, Haack, Tobias B
Published in Journal of medical genetics (01.04.2016)
Published in Journal of medical genetics (01.04.2016)
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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
Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation
Passmore, Josiah B., Carmichael, Ruth E., Schrader, Tina A., Godinho, Luis F., Ferdinandusse, Sacha, Lismont, Celien, Wang, Yunhong, Hacker, Christian, Islinger, Markus, Fransen, Marc, Richards, David M., Freisinger, Peter, Schrader, Michael
Published in Biochimica et biophysica acta. Molecular cell research (01.07.2020)
Published in Biochimica et biophysica acta. Molecular cell research (01.07.2020)
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Journal Article
Spectrum of combined respiratory chain defects
Mayr, Johannes A., Haack, Tobias B., Freisinger, Peter, Karall, Daniela, Makowski, Christine, Koch, Johannes, Feichtinger, René G., Zimmermann, Franz A., Rolinski, Boris, Ahting, Uwe, Meitinger, Thomas, Prokisch, Holger, Sperl, Wolfgang
Published in Journal of inherited metabolic disease (01.07.2015)
Published in Journal of inherited metabolic disease (01.07.2015)
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Journal Article
Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo 1H-NMR Analysis
Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Published in Molecules (Basel, Switzerland) (22.06.2023)
Published in Molecules (Basel, Switzerland) (22.06.2023)
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Journal Article
Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Lenz, Dominic, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Ozolek, John A., Zschocke, Johannes, Kuster, Alice, Dick, Anke, Das, Anib M., Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Hoffmann, Georg F.
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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Journal Article
Long-term efficacy and safety of sapropterin in patients who initiated sapropterin at < 4 years of age with phenylketonuria: results of the 3-year extension of the SPARK open-label, multicentre, randomised phase IIIb trial
Muntau, Ania C, Burlina, Alberto, Eyskens, François, Freisinger, Peter, Leuzzi, Vincenzo, Sivri, Hatice Serap, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelia S, Lane, Paul, Alvarez, Ignacio, Rutsch, Frank
Published in Orphanet journal of rare diseases (03.08.2021)
Published in Orphanet journal of rare diseases (03.08.2021)
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Journal Article
The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (29.09.2021)
Published in Scientific reports (29.09.2021)
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Journal Article
Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Journal Article
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier
Bölsterli, Bigna K, Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L, Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M, Makowski, Christine, Mignot, Cyril, O’Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A, Prokisch, Holger, Wortmann, Saskia B
Published in Nutrients (31.08.2022)
Published in Nutrients (31.08.2022)
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Journal Article
Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investigation
Cannet, Claire, Pilotto, Andrea, Rocha, Júlio César, Schäfer, Hartmut, Spraul, Manfred, Berg, Daniela, Nawroth, Peter, Kasperk, Christian, Gramer, Gwendolyn, Haas, Dorothea, Piel, David, Kölker, Stefan, Hoffmann, Georg, Freisinger, Peter, Trefz, Friedrich
Published in Orphanet journal of rare diseases (27.02.2020)
Published in Orphanet journal of rare diseases (27.02.2020)
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Journal Article
Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options
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.
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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Journal Article
Homozygous missense mutation in BOLA3 causes multiple mitochondrial dysfunctions syndrome in two siblings
Haack, Tobias B., Rolinski, Boris, Haberberger, Birgit, Zimmermann, Franz, Schum, Jessica, Strecker, Valentina, Graf, Elisabeth, Athing, Uwe, Hoppen, Thomas, Wittig, Ilka, Sperl, Wolfgang, Freisinger, Peter, Mayr, Johannes A., Strom, Tim M., Meitinger, Thomas, Prokisch, Holger
Published in Journal of inherited metabolic disease (01.01.2013)
Published in Journal of inherited metabolic disease (01.01.2013)
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Journal Article
Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome
Haack, Tobias B., Makowski, Christine, Yao, Yoshiaki, Graf, Elisabeth, Hempel, Maja, Wieland, Thomas, Tauer, Ulrike, Ahting, Uwe, Mayr, Johannes A., Freisinger, Peter, Yoshimatsu, Hiroki, Inui, Ken, Strom, Tim M., Meitinger, Thomas, Yonezawa, Atsushi, Prokisch, Holger
Published in Journal of inherited metabolic disease (01.11.2012)
Published in Journal of inherited metabolic disease (01.11.2012)
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Journal Article
Publisher Correction: The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study
Märtner, E. M. Charlotte, Thimm, Eva, Guder, Philipp, Schiergens, Katharina A., Rutsch, Frank, Roloff, Sylvia, Marquardt, Iris, Das, Anibh M., Freisinger, Peter, Grünert, Sarah C., Krämer, Johannes, Baumgartner, Matthias R., Beblo, Skadi, Haase, Claudia, Dieckmann, Andrea, Lindner, Martin, Näke, Andrea, Hoffmann, Georg F., Mühlhausen, Chris, Walter, Magdalena, Garbade, Sven F., Maier, Esther M., Kölker, Stefan, Boy, Nikolas
Published in Scientific reports (12.10.2021)
Published in Scientific reports (12.10.2021)
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Journal Article
The spectrum of pyruvate oxidation defects in the diagnosis of mitochondrial disorders
Sperl, Wolfgang, Fleuren, Leanne, Freisinger, Peter, Haack, Tobias B., Ribes, Antonia, Feichtinger, René G., Rodenburg, Richard J., Zimmermann, Franz A., Koch, Johannes, Rivera, Isabel, Prokisch, Holger, Smeitink, Jan A., Mayr, Johannes A.
Published in Journal of inherited metabolic disease (01.05.2015)
Published in Journal of inherited metabolic disease (01.05.2015)
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Journal Article
Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation
Mayr, Johannes A., Merkel, Olaf, Kohlwein, Sepp D., Gebhardt, Boris R., Böhles, Hansjosef, Fötschl, Ulrike, Koch, Johannes, Jaksch, Michaela, Lochmüller, Hanns, Horváth, Rita, Freisinger, Peter, Sperl, Wolfgang
Published in American journal of human genetics (01.03.2007)
Published in American journal of human genetics (01.03.2007)
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Journal Article
Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome
Bärhold, Friederike, Meyer, Uta, Neugebauer, Anne-Kathrin, Thimm, Eva Maria, Lier, Dinah, Rosenbaum-Fabian, Stefanie, Och, Ulrike, Fekete, Anna, Möslinger, Dorothea, Rohde, Carmen, Beblo, Skadi, Hochuli, Michel, Bogovic, Nina, Korpel, Vanessa, Dahl, Stephan Vom, Mayorandan, Sebene, Fischer, Aleksandra, Freisinger, Peter, Dokoupil, Katharina, Heddrich-Ellerbrok, Margret, Jörg-Streller, Monika, van Teeffelen-Heithoff, Agnes, Lahl, Janina, Das, Anibh Martin
Published in Nutrients (31.12.2020)
Published in Nutrients (31.12.2020)
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