Resultados da pesquisa - Freisinger, Peter

Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening Por Hübner, Vanessa, Hannibal, Luciana, Janzen, Nils, Grünert, Sarah Catharina, Freisinger, Peter

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Ammonia and coma – a case report of late onset hemizygous ornithine carbamyltransferase deficiency in 68-year-old female Por Marquetand, Justus, Freisinger, Peter, Lindig, Tobias, Euler, Sebastian, Gasser, Michael, Overkamp, Dietrich

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Thiamine Pyrophosphokinase Deficiency in Encephalopathic Children with Defects in the Pyruvate Oxidation Pathway Por Mayr, Johannes A., Freisinger, Peter, Schlachter, Kurt, Rolinski, Boris, Zimmermann, Franz A., Scheffner, Thomas, Haack, Tobias B., Koch, Johannes, Ahting, Uwe, Prokisch, Holger, Sperl, Wolfgang

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Mitochondrial Phosphate–Carrier Deficiency: A Novel Disorder of Oxidative Phosphorylation Por 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

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Mitochondrial Protein Lipoylation and the 2-Oxoglutarate Dehydrogenase Complex Controls HIF1α Stability in Aerobic Conditions Por Burr, Stephen P., Costa, Ana S.H., Grice, Guinevere L., Timms, Richard T., Lobb, Ian T., Freisinger, Peter, Dodd, Roger B., Dougan, Gordon, Lehner, Paul J., Frezza, Christian, Nathan, James A.

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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... Por 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

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Spectrum of combined respiratory chain defects Por 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

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Lower plasma cholesterol, LDL-cholesterol and LDL-lipoprotein subclasses in adult phenylketonuria (PKU) patients compared to healthy controls: results of NMR metabolomics investiga... Por 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

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Mitochondrial fission factor (MFF) is a critical regulator of peroxisome maturation Por 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

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Inactivity of Peptidase ClpP Causes Primary Accumulation of Mitochondrial Disaggregase ClpX with Its Interacting Nucleoid Proteins, and of mtDNA Por Key, Jana, Torres-Odio, Sylvia, Bach, Nina C., Gispert, Suzana, Koepf, Gabriele, Reichlmeir, Marina, West, A. Phillip, Prokisch, Holger, Freisinger, Peter, Newman, William G., Shalev, Stavit, Sieber, Stephan A., Wittig, Ilka, Auburger, Georg

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Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype Por Koch, Johannes, Freisinger, Peter, Feichtinger, René G, Zimmermann, Franz A, Rauscher, Christian, Wagentristl, Hans P, Konstantopoulou, Vassiliki, Seidl, Rainer, Haack, Tobias B, Prokisch, Holger, Ahting, Uwe, Sperl, Wolfgang, Mayr, Johannes A, Maier, Esther M

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Impaired riboflavin transport due to missense mutations in SLC52A2 causes Brown-Vialetto-Van Laere syndrome Por 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

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Efficacy, safety and population pharmacokinetics of sapropterin in PKU patients <4 years: results from the SPARK open-label, multicentre, randomized phase IIIb trial Por Muntau, Ania C., Burlina, Alberto, Eyskens, François, Freisinger, Peter, De Laet, Corinne, Leuzzi, Vincenzo, Rutsch, Frank, Sivri, H. Serap, Vijay, Suresh, Bal, Milva Orquidea, Gramer, Gwendolyn, Pazdírková, Renata, Cleary, Maureen, Lotz-Havla, Amelie S., Munafo, Alain, Mould, Diane R., Moreau-Stucker, Flavie, Rogoff, Daniela

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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin Por Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Møller, Lisbeth Birk, Kaler, Stephen G., Gärtner, Jutta

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Mutations in SLC33A1 Cause a Lethal Autosomal-Recessive Disorder with Congenital Cataracts, Hearing Loss, and Low Serum Copper and Ceruloplasmin Por Huppke, Peter, Brendel, Cornelia, Kalscheuer, Vera, Korenke, Georg Christoph, Marquardt, Iris, Freisinger, Peter, Christodoulou, John, Hillebrand, Merle, Pitelet, Gaele, Wilson, Callum, Gruber-Sedlmayr, Ursula, Ullmann, Reinhard, Haas, Stefan, Elpeleg, Orly, Nürnberg, Gudrun, Nürnberg, Peter, Dad, Shzeena, Birk Møller, Lisbeth, Kaler, Stephen G., Gärtner, Jutta

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ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy Por Haack, Tobias B., Kopajtich, Robert, Freisinger, Peter, Wieland, Thomas, Rorbach, Joanna, Nicholls, Thomas J., Baruffini, Enrico, Walther, Anett, Danhauser, Katharina, Zimmermann, Franz A., Husain, Ralf A., Schum, Jessica, Mundy, Helen, Ferrero, Ileana, Strom, Tim M., Meitinger, Thomas, Taylor, Robert W., Minczuk, Michal, Mayr, Johannes A., Prokisch, Holger

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Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration Por Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas

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Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency Por Ahting, Uwe, Mayr, Johannes A., Vanlander, Arnaud V., Hardy, Steven A., Santra, Saikat, Makowski, Christine, Alston, Charlotte L., Zimmermann, Franz A., Abela, Lucia, Plecko, Barbara, Rohrbach, Marianne, Spranger, Stephanie, Seneca, Sara, Rolinski, Boris, Hagendorff, Angela, Hempel, Maja, Sperl, Wolfgang, Meitinger, Thomas, Smet, Joél, Taylor, Robert W., Van Coster, Rudy, Freisinger, Peter, Prokisch, Holger, Haack, Tobias B.

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Hepatorenal Tyrosinaemia: Impact of a Simplified Diet on Metabolic Control and Clinical Outcome Por 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, vom Dahl, Stephan, Mayorandan, Sebene, Fischer, Aleksandra, Freisinger, Peter, Dokoupil, Katharina, Heddrich-Ellerbrok, Margret, Jörg-Streller, Monika, van Teeffelen-Heithoff, Agnes, Lahl, Janina, Das, Anibh Martin

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The biochemical subtype is a predictor for cognitive function in glutaric aciduria type 1: a national prospective follow-up study Por 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

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