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  2. Herzer, Martina [Author] ; Freisinger, Peter J. K. [Degree supervisor]; Meitinger, Thomas Alois [Degree supervisor]

    Clinical spectrum and phenotype-genotype correlations in patients with mitochondrial complex I deficiency

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    München: Universitätsbibliothek der TU München, 2015

  4. Stenton, Sarah Louise [Author] ; Meitinger, Thomas [Degree supervisor]; Freisinger, Peter [Other]; Zschocke, Johannes [Other]; Klopstock, Thomas [Other]

    Mitochondrial disease: elucidating genetic aetiology by variant discovery, validation, and integration with clinical phenotype

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    München: Universitätsbibliothek der TU München, 2021

  5. Alessio, Enzo [Other]; Ang, Wee Han [Other]; Babak, Maria V. [Other]; Berners-Price, Susan [Other]; Brabec, Victor [Other]; Casini, A. [Other]; Farrell, Nicholas P. [Other]; Freisinger, Eva [Other]; Gorle, Anil K. [Other]; Kasparkova, Jana [Other]; Lippard, Stephen J. [Other]; Menon, Vijay [Other]; Messori, Luigi [Other]; Peterson, Erica J. [Other]; Riddell, Imogen [Other]; Sadler, Peter J. [Other]; Sigel, Astrid [Other]; Sigel, Helmut [Other]; Sigel, Roland K [Other]; Venkatesh, V. [Other]

    Metallo-Drugs: Development and Action of Anticancer Agents

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    Berlin ;Boston: De Gruyter, 2018

    Published in: Metal Ions in Life Sciences ; 18

  6. Stenton, Sarah Louise [Author] ; Meitinger, Thomas [Degree supervisor]; Freisinger, Peter [Other]; Zschocke, Johannes [Other]; Klopstock, Thomas [Other]

    Mitochondrial disease: elucidating genetic aetiology by variant discovery, validation, and integration with clinical phenotype

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    München: Universitätsbibliothek der TU München, 2021

  7. Fütterer, Nancy [Author] ; Freisinger, Peter J. K. [Degree supervisor]; Meitinger, Thomas Alois [Degree supervisor]; Burdach, Stefan [Degree supervisor]

    Mitochondriale hepatozerebrale Syndrome im Kindesalter - mtDNA Depletion und Mutationen im POLG1- bzw. DGUOK- Gen als mögliche Pathogenese

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    München: Universitätsbibliothek der TU München, 2013

  8. Boy, Nikolas [Author]; Mohr, Alexander [Author]; Garbade, Sven [Author]; Freisinger, Peter [Author]; Heringer-Seifert, Jana [Author]; Seitz, Angelika [Author]; Kölker, Stefan [Author]; Harting, Inga [Author]

    Subdural hematoma in glutaric aciduria type 1 : high excreters are prone to incidental SDH despite newborn screening

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 6, Seite 1343-1352$10

  9. Grünert, Sarah [Author]; Schumann, Anke [Author]; Freisinger, Peter [Author]; Rosenbaum-Fabian, Stefanie [Author]; Schmidts, Miriam [Author]; Müller, Amelie Johanna [Author]; Beck-Wödl, Stefanie [Author]; Haack, Tobias [Author]; Schneider, Hendryk [Author]; Fuchs, Hans [Author]; Teufel-Schäfer, Ulrike [Author]; Gramer, Gwendolyn [Author]; Hannibal, Luciana [Author]; Spiekerkötter, Ute [Author]

    Citrin deficiency mimicking mitochondrial depletion syndrome

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    London: Springer Nature, 2020

    Published in: BMC pediatrics ; 20, 1 (2020), 518

  10. Märtner, E.M. Charlotte [Author]; Thimm, Eva [Author]; Guder, Philipp [Author]; Schiergens, Katharina A. [Author]; Rutsch, Frank [Author]; Roloff, Sylvia [Author]; Marquardt, Iris [Author]; Das, Anibh M. [Author]; Freisinger, Peter [Author]; Grünert, Sarah C. [Author]; Krämer, Johannes [Author]; Baumgartner, Matthias R. [Author]; Beblo, Skadi [Author]; Haase, Claudia [Author]; Dieckmann, Andrea [Author]; Lindner, Martin [Author]; Näke, Andrea [Author]; Hoffmann, Georg F. [Author]; Mühlhausen, Chris [Author]; Walter, Magdalena [Author]; Garbade, Sven [Author]; Maier, Esther M. [Author]; Kölker, Stefan [Author]; Boy, Nikolas [Author]

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

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    29 September 2021

    Published in: Scientific reports ; 11(2021), Artikel-ID 19300, Seite 1-12

  11. Bärhold, Friederike [Author]; Meyer, Uta [Author]; Neugebauer, Anne-Kathrin [Author]; Thimm, Eva [Author]; Lier, Dinah [Author]; Rosenbaum-Fabian, Stefanie [Author]; Och, Ulrike [Author]; Fekete, Anna [Author]; Möslinger, Dorothea [Author]; Rohde, Carmen [Author]; Beblo, Skadi [Author]; Hochuli, Michel [Author]; Bogovic, Nina [Author]; Korpel, Vanessa [Author]; Vom Dahl, Stephan [Author]; Mayorandan, Sebene [Author]; Fischer, Aleksandra [Author]; Freisinger, Peter [Author]; Dokoupil, Katharina [Author]; Heddrich-Ellerbrok, Margret [Author]; Jörg-Streller, Monika [Author]; Teeffelen-Heithoff, Agnes van [Author]; Lahl, Janina [Author]; Das, Anibh Martin [Author]

    Hepatorenal tyrosinaemia: impact of a simplified diet on metabolic control and clinical outcome

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    Basel: MDPI AG, 2021

    Published in: Nutrients ; 13, 1 (2021), 134

  12. Märtner, E.M. Charlotte [Author]; Maier, Esther M. [Author]; Mengler, Katharina [Author]; Thimm, Eva [Author]; Schiergens, Katharina A. [Author]; Marquardt, Thorsten [Author]; Santer, René [Author]; Weinhold, Natalie [Author]; Marquardt, Iris [Author]; Das, Anibh M. [Author]; Freisinger, Peter [Author]; Grünert, Sarah C. [Author]; Vossbeck, Judith [Author]; Steinfeld, Robert [Author]; Baumgartner, Matthias R. [Author]; Beblo, Skadi [Author]; Dieckmann, Andrea [Author]; Näke, Andrea [Author]; Lindner, Martin [Author]; Heringer-Seifert, Jana [Author]; Lenz, Dominic [Author]; Hoffmann, Georg F. [Author]; Mühlhausen, Chris [Author]; Ensenauer, Regina [Author]; [...]

    Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1 : a national prospective multi-centre study

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    2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 3, Seite 629-638

  13. Mütze, Ulrike [Author]; Henze, Lucy [Author]; Gleich, Florian [Author]; Lindner, Martin [Author]; Grünert, Sarah [Author]; Spiekerkötter, Ute [Author]; Santer, René [Author]; Blessing, Holger [Author]; Thimm, Eva [Author]; Ensenauer, Regina [Author]; Weigel, Johannes [Author]; Beblo, Skadi [Author]; Arélin, Maria [Author]; Hennermann, Julia B. [Author]; Marquardt, Thorsten [Author]; Marquardt, Iris [Author]; Freisinger, Peter [Author]; Krämer, Johannes [Author]; Dieckmann, Andrea [Author]; Weinhold, Natalie [Author]; Keller, Mareike [Author]; Walter, Magdalena [Author]; Schiergens, Katharina Anna [Author]; Maier, Esther M. [Author]; [...]

    Newborn screening and disease variants predict neurological outcome in isovaleric aciduria

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    25 January 2021

    Published in: Journal of inherited metabolic disease ; 44(2021), 4 vom: 25. Jan., Seite 1-14

  14. Bölsterli, Bigna K. [Author]; Boltshauser, Eugen [Author]; Palmieri, Luigi [Author]; Spenger, Johannes [Author]; Brunner-Krainz, Michaela [Author]; Distelmaier, Felix [Author]; Freisinger, Peter [Author]; Geis, Tobias [Author]; Gropman, Andrea L. [Author]; Häberle, Johannes [Author]; Hentschel, Julia [Author]; Jeandidier, Bruno [Author]; Karall, Daniela [Author]; Keren, Boris [Author]; Klabunde-Cherwon, Annick [Author]; Konstantopoulou, Vassiliki [Author]; Kottke, Raimund [Author]; Lasorsa, Francesco M. [Author]; Makowski, Christine [Author]; Mignot, Cyril [Author]; O'Gorman Tuura, Ruth [Author]; Porcelli, Vito [Author]; Santer, René [Author]; Sen, Kuntal [Author]; [...]

    Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier

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    Basel: MDPI, [2023]

    Published in: Nutrients ; 14, (2022)

  15. Van Damme, Tim [Author]; Gardeitchik, Thatjana [Author]; Mohamed, Miski [Author]; Guerrero-Castillo, Sergio [Author]; Freisinger, Peter [Author]; Guillemyn, Brecht [Author]; Kariminejad, Ariana [Author]; Dalloyaux, Daisy [Author]; Kraaij, Sannevan [Author]; Lefeber, Dirk J. [Author]; Syx, Delfien [Author]; Steyaert, Wouter [Author]; De Rycke, Riet [Author]; Hoischen, Alexander [Author]; Kamsteeg, Erik-Jan [Author]; Wong, Sunnie Y. [Author]; Scherpenzeel, Monique van [Author]; Jamili, Payman [Author]; Brandt, Ulrich [Author]; Nijtmans, Leo [Author]; Korenke, Christoph [Author]; Chung, Brian H.Y [Author]; Mak, Christopher C.Y [Author]; Hausser, Ingrid [Author]; [...]

    Mutations in ATP6V1E1 or ATP6V1A Cause Autosomal-Recessive Cutis Laxa : [erratum]

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    2020

    Published in: The American journal of human genetics ; 107(2020), 2, Seite 374