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Number of items: 7.

Karall, Daniela; Brunner-Krainz, Michaela; Kogelnig, Katharina; Konstantopoulou, Vassiliki; Maier, Esther M; Möslinger, Dorothea; Plecko, Barbara; Sperl, Wolfgang; Volkmar, Barbara; Scholl-Bürgi, Sabine (2015). Clinical outcome, biochemical and therapeutic follow-up in 14 Austrian patients with Long-Chain 3-Hydroxy Acyl CoA Dehydrogenase Deficiency (LCHADD). Orphanet Journal of Rare Diseases, 10(21):online.

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 (2015). Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency. Frontiers in Genetics:6:123.

Haack, Tobias B; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B; Rodenburg, Richard J; Kotzaeridou, Urania; Hoffmann, Georg F; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter (2014). Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening. Molecular Genetics and Metabolism, 111(3):342-352.

Gai, Xiaowu; Ghezzi, Daniele; Johnson, Mark A; Biagosch, Caroline A; Shamseldin, Hanan E; Haack, Tobias B; Reyes, Aurelio; Tsukikawa, Mai; Sheldon, Claire A; Srinivasan, Satish; Gorza, Matteo; Kremer, Laura S; Wieland, Thomas; Strom, Tim M; Polyak, Erzsebet; Place, Emily; Consugar, Mark; Ostrovsky, Julian; Vidoni, Sara; Robinson, Alan J; Wong, Lee-Jun; Sondheimer, Neal; Salih, Mustafa A; Al-Jishi, Emtethal; Raab, Christopher P; Bean, Charles; Furlan, Francesca; Parini, Rossella; Lamperti, Costanza; Mayr, Johannes A; Konstantopoulou, Vassiliki; Huemer, Martina; Pierce, Eric A; Meitinger, Thomas; Freisinger, Peter; Sperl, Wolfgang; Prokisch, Holger; Alkuraya, Fowzan S; Falk, Marni J; Zeviani, Massimo (2013). Mutations in FBXL4, encoding a mitochondrial protein, cause early-onset mitochondrial encephalomyopathy. American Journal of Human Genetics, 93(3):482-495.

Sterl, Elisabeth; Paul, Karl; Paschke, Eduard; Zschocke, Johannes; Brunner-Krainz, Michaela; Windisch, Eva; Konstantopoulou, Vassiliki; Möslinger, Dorothea; Karall, Daniela; Scholl-Bürgi, Sabine; Sperl, Wolfgang; Lagler, Florian; Plecko, Barbara (2013). Prevalence of tetrahydrobiopterine (BH4)-responsive alleles among Austrian patients with PAH deficiency: comprehensive results from molecular analysis in 147 patients. Journal of Inherited Metabolic Disease, 36(1):7-13.

Grünert, Sarah C; Müllerleile, Stephanie; De Silva, Linda; Barth, Michael; Walter, Melanie; Walter, Kerstin; Meissner, Thomas; Lindner, Martin; Ensenauer, Regina; Santer, René; Bodamer, Olaf A; Baumgartner, Matthias R; Brunner-Krainz, Michaela; Karall, Daniela; Haase, Claudia; Knerr, Ina; Marquardt, Thorsten; Hennermann, Julia B; Steinfeld, Robert; Beblo, Skadi; Koch, Hans-Georg; Konstantopoulou, Vassiliki; Scholl-Bürgi, Sabine; van Teeffelen-Heithoff, Agnes; Suormala, Terttu; Sperl, Wolfgang; Kraus, Jan P; Superti-Furga, Andrea; Schwab, Karl Otfried; Sass, Jörn Oliver (2013). Propionic acidemia: clinical course and outcome in 55 pediatric and adolescent patients. Orphanet Journal of Rare Diseases, 8:6.

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 (2012). Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. American Journal of Human Genetics, 90(2):314-320.

This list was generated on Sun Feb 24 02:00:46 2019 CET.