Methionine Adenosyltransferase I/III Deficiency Detected by Newborn Screening

por Hübner, Vanessa, Hannibal, Luciana, Janzen, Nils, Grünert, Sarah Catharina, Freisinger, Peter
Publicado 2022

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
Publicado 2020

Phenylketonuria (PKU) Urinary Metabolomic Phenotype Is Defined by Genotype and Metabolite Imbalance: Results in 51 Early Treated Patients Using Ex Vivo (1)H-NMR Analysis

por Cannet, Claire, Bayat, Allan, Frauendienst-Egger, Georg, Freisinger, Peter, Spraul, Manfred, Himmelreich, Nastassja, Kockaya, Musa, Ahring, Kirsten, Godejohann, Markus, MacDonald, Anita, Trefz, Friedrich
Publicado 2023

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.
Publicado 2016

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
Publicado 2021

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
Publicado 2015

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
Publicado 2020

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
Publicado 2020

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
Publicado 2021

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
Publicado 2015

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
Publicado 2012

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
Publicado 2017

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
Publicado 2020

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.
Publicado 2015

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
Publicado 2020

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
Publicado 2021

Publisher Correction: 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
Publicado 2021

DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome

por Stenton, Sarah L., Tesarova, Marketa, Sheremet, Natalia L., Catarino, Claudia B., Carelli, Valerio, Ciara, Elżbieta, Curry, Kathryn, Engvall, Martin, Fleming, Leah R., Freisinger, Peter, Iwanicka-Pronicka, Katarzyna, Jurkiewicz, Elżbieta, Klopstock, Thomas, Koenig, Mary K., Kolářová, Hana, Kousal, Bohdan, Krylova, Tatiana, La Morgia, Chiara, Nosková, Lenka, Piekutowska-Abramczuk, Dorota, Russo, Sam N., Stránecký, Viktor, Tóthová, Iveta, Träisk, Frank, Prokisch, Holger
Publicado 2022

Mutations in the X-linked ATP6AP2 cause a glycosylation disorder with autophagic defects

por Rujano, Maria A., Cannata Serio, Magda, Panasyuk, Ganna, Péanne, Romain, Reunert, Janine, Rymen, Daisy, Hauser, Virginie, Park, Julien H., Freisinger, Peter, Souche, Erika, Guida, Maria Clara, Maier, Esther M., Wada, Yoshinao, Jäger, Stefanie, Krogan, Nevan J., Kretz, Oliver, Nobre, Susana, Garcia, Paula, Quelhas, Dulce, Bird, Thomas D., Raskind, Wendy H., Schwake, Michael, Duvet, Sandrine, Foulquier, Francois, Matthijs, Gert, Marquardt, Thorsten, Simons, Matias
Publicado 2017

COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ(10) Deficiency

por Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Publicado 2015