Search Results - Wortmann, Saskia

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  1. 1
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    Exploring secondary biotinidase deficiency and biotin supplementation in PMM2-CDG by Himmelreich, Nastassja (Author) , Garbade, Sven (Author) , Okun, Jürgen G. (Author) , Hengst, Simone (Author) , Geiger, Virginia (Author) , Barone, Rita (Author) , Wortmann, Saskia B. (Author) , Thiel, Christian (Author) ,


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  2. 2
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    Genetic landscape of pediatric acute liver failure of indeterminate origin by Lenz, Dominic (Author) , Schlieben, Lea D. (Author) , Shimura, Masaru (Author) , Bianzano, Alyssa (Author) , Smirnov, Dmitrii (Author) , Kopajtich, Robert (Author) , Berutti, Riccardo (Author) , Adam, Rüdiger (Author) , Aldrian, Denise (Author) , Baric, Ivo (Author) , Baumann, Ulrich (Author) , Bozbulut, Neslihan E. (Author) , Brugger, Melanie (Author) , Brunet, Theresa (Author) , Bufler, Philip (Author) , Burnytė, Birutė (Author) , Calvo, Pier L. (Author) , Crushell, Ellen (Author) , Dalgiç, Buket (Author) , Das, Anibh M. (Author) , Dezsőfi, Antal (Author) , Distelmaier, Felix (Author) , Fichtner, Alexander (Author) , Freisinger, Peter (Author) , Garbade, Sven (Author) , Gaspar, Harald (Author) , Goujon, Louise (Author) , Hadzic, Nedim (Author) , Hartleif, Steffen (Author) , Hegen, Bianca (Author) , Hempel, Maja (Author) , Henning, Stephan (Author) , Hoerning, Andre (Author) , Houwen, Roderick (Author) , Hughes, Joanne (Author) , Iorio, Raffaele (Author) , Iwanicka-Pronicka, Katarzyna (Author) , Jankofsky, Martin (Author) , Junge, Norman (Author) , Kanavaki, Ino (Author) , Kansu, Aydan (Author) , Kaspar, Sonja (Author) , Kathemann, Simone (Author) , Kelly, Deidre (Author) , Kirsaçlioğlu, Ceyda T. (Author) , Knoppke, Birgit (Author) , Kohl, Martina (Author) , Kölbel, Heike (Author) , Kölker, Stefan (Author) , Konstantopoulou, Vassiliki (Author) , Krylova, Tatiana (Author) , Kuloğlu, Zarife (Author) , Kuster, Alice (Author) , Laass, Martin W. (Author) , Lainka, Elke (Author) , Lurz, Eberhard (Author) , Mandel, Hanna (Author) , Mayerhanser, Katharina (Author) , Mayr, Johannes A. (Author) , McKiernan, Patrick (Author) , McClean, Patricia (Author) , McLin, Valerie (Author) , Mention, Karine (Author) , Müller, Hanna (Author) , Pasquier, Laurent (Author) , Pavlov, Martin (Author) , Pechatnikova, Natalia (Author) , Peters, Bianca (Author) , Petković Ramadža, Danijela (Author) , Piekutowska-Abramczuk, Dorota (Author) , Pilic, Denisa (Author) , Rajwal, Sanjay (Author) , Rock, Nathalie (Author) , Roetig, Agnès (Author) , Santer, René (Author) , Schenk, Wilfried (Author) , Semenova, Natalia (Author) , Sokollik, Christiane (Author) , Sturm, Ekkehard (Author) , Taylor, Robert W. (Author) , Tschiedel, Eva (Author) , Urbonas, Vaidotas (Author) , Urreizti, Roser (Author) , Vermehren, Jan (Author) , Vockley, Jerry (Author) , Vogel, Georg-Friedrich (Author) , Wagner, Matias (Author) , van der Woerd, Wendy (Author) , Wortmann, Saskia B. (Author) , Zakharova, Ekaterina (Author) , Hoffmann, Georg F. (Author) , Meitinger, Thomas (Author) , Murayama, Kei (Author) , Staufner, Christian (Author) , Prokisch, Holger (Author) ,


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  3. 3
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    Empagliflozin for treating neutropenia and neutrophil dysfunction in 21 infants with glycogen storage disease 1b by Grünert, Sarah (Author) , Gautschi, Matthias (Author) , Baker, Joshua (Author) , Boyer, Monica (Author) , Burlina, Alberto (Author) , Casswall, Thomas (Author) , Corpeleijn, Willemijn (Author) , Çıki, Kismet (Author) , Cotter, Melanie (Author) , Crushell, Ellen (Author) , Derks, Terry G. J. (Author) , Haas, Dorothea (Author) , Kilavuz, Sebile (Author) , Kingma, Sandra D. K. (Author) , Korman, Stanley H. (Author) , Kozek, Anne (Author) , de Laet, Corinne (Author) , Mundy, Helen (Author) , Nassogne, Marie Cecile (Author) , Quintero, Victor (Author) , Rossi, Alessandro (Author) , Spenger, Johannes (Author) , Spiegel, Ronen (Author) , Stephenne, Xavier (Author) , Stojkov, Darko (Author) , Tal, Galit (Author) , Veiga-da Cunha, Maria (Author) , Wortmann, Saskia B. (Author) ,


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  4. 4
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    Clinical, neuroimaging, and metabolic footprint of the neurodevelopmental disorder caused by monoallelic HK1 variants by Wortmann, Saskia B. (Author) , Feichtinger, Rene G. (Author) , Abela, Lucia (Author) , van Gemert, Loes A. (Author) , Aubart, Mélodie (Author) , Dufeu-Berat, Claire-Marine (Author) , Boddaert, Nathalie (Author) , de Coo, Rene (Author) , Stühn, Lara (Author) , Hebbink, Jasmijn (Author) , Heinritz, Wolfram (Author) , Hildebrandt, Julia (Author) , Himmelreich, Nastassja (Author) , Korenke, Christoph (Author) , Lehman, Anna (Author) , Leyland, Thomas (Author) , Makowski, Christine (Author) , Martinez Marin, Rafael Jenaro (Author) , Marzin, Pauline (Author) , Mühlhausen, Chris (Author) , Rio, Marlène (Author) , Rotig, Agnes (Author) , Roux, Charles-Joris (Author) , Schiff, Manuel (Author) , Haack, Tobias B. (Author) , Syrbe, Steffen (Author) , Zylicz, Stas A. (Author) , Thiel, Christian (Author) , Veiga da Cunha, Maria (Author) , van Schaftingen, Emile (Author) , Wagner, Matias (Author) , Mayr, Johannes A. (Author) , Wevers, Ron A. (Author) , Boltshauser, Eugen (Author) , Willemsen, Michel A. (Author) ,


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  5. 5
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    Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants by Vogel, Georg (Author) , Mozer-Glassberg, Yael (Author) , Landau, Yuval E. (Author) , Schlieben, Lea D. (Author) , Prokisch, Holger (Author) , Feichtinger, René G. (Author) , Mayr, Johannes A. (Author) , Brennenstuhl, Heiko (Author) , Schröter, Julian (Author) , Pechlaner, Agnes (Author) , Alkuraya, Fowzan S. (Author) , Baker, Joshua J. (Author) , Barcia, Giulia (Author) , Baric, Ivo (Author) , Braverman, Nancy (Author) , Burnyte, Birute (Author) , Christodoulou, John (Author) , Ciara, Elzbieta (Author) , Coman, David (Author) , Das, Anibh M. (Author) , Darin, Niklas (Author) , Della Marina, Adela (Author) , Distelmaier, Felix (Author) , Eklund, Erik A. (Author) , Ersoy, Melike (Author) , Fang, Weiyan (Author) , Gaignard, Pauline (Author) , Ganetzky, Rebecca D. (Author) , Gonzales, Emmanuel (Author) , Howard, Caoimhe (Author) , Hughes, Joanne (Author) , Konstantopoulou, Vassiliki (Author) , Kose, Melis (Author) , Kerr, Marina (Author) , Khan, Aneal (Author) , Lenz, Dominic (Author) , McFarland, Robert (Author) , Margolis, Merav Gil (Author) , Morrison, Kevin (Author) , Müller, Thomas (Author) , Murayama, Kei (Author) , Nicastro, Emanuele (Author) , Pennisi, Alessandra (Author) , Peters, Heidi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnès (Author) , Santer, René (Author) , Scaglia, Fernando (Author) , Schiff, Manuel (Author) , Shagrani, Mohmmad (Author) , Sharrard, Mark (Author) , Soler-Alfonso, Claudia (Author) , Staufner, Christian (Author) , Storey, Imogen (Author) , Stormon, Michael (Author) , Taylor, Robert W. (Author) , Thorburn, David R. (Author) , Teles, Elisa Leao (Author) , Wang, Jian-She (Author) , Weghuber, Daniel (Author) , Wortmann, Saskia (Author) ,


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  6. 6
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    PPA1 deficiency causes a deranged galactose metabolism recognizable in neonatal screening by Achleitner, Melanie T. (Author) , Jans, Judith J. M. (Author) , Ebner, Laura (Author) , Spenger, Johannes (Author) , Konstantopoulou, Vassiliki (Author) , Feichtinger, René G. (Author) , Brugger, Karin (Author) , Mayr, Doris (Author) , Wevers, Ron A. (Author) , Thiel, Christian (Author) , Wortmann, Saskia B. (Author) , Mayr, Johannes A. (Author) ,


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  7. 7
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    Ketogenic diet treatment of defects in the mitochondrial malate aspartate shuttle and pyruvate carrier by Bölsterli Heinzle, Bigna (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) , Steinbrücker, Katja (Author) , Syrbe, Steffen (Author) , Wagner, Matias (Author) , Ziegler, Andreas (Author) , Zöggeler, Thomas (Author) , Mayr, Johannes A. (Author) , Prokisch, Holger (Author) , Wortmann, Saskia B. (Author) ,


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  8. 8
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    Clinical implementation of RNA sequencing for Mendelian disease diagnostics by Yépez, Vicente (Author) , Gusic, Mirjana (Author) , Kopajtich, Robert (Author) , Mertes, Christian (Author) , Smith, Nicholas H. (Author) , Alston, Charlotte L. (Author) , Ban, Rui (Author) , Beblo, Skadi (Author) , Berutti, Riccardo (Author) , Blessing, Holger (Author) , Ciara, Elzbieta (Author) , Distelmaier, Felix (Author) , Freisinger, Peter (Author) , Haeberle, Johannes (Author) , Hayflick, Susan J. (Author) , Hempel, Maja (Author) , Itkis, Yulia S. (Author) , Kishita, Yoshihito (Author) , Klopstock, Thomas (Author) , Krylova, Tatiana D. (Author) , Lamperti, Costanza (Author) , Lenz, Dominic (Author) , Makowski, Christine (Author) , Mosegaard, Signe (Author) , Mueller, Michaela F. (Author) , Munoz-Pujol, Gerard (Author) , Nadel, Agnieszka (Author) , Ohtake, Akira (Author) , Okazaki, Yasushi (Author) , Procopio, Elena (Author) , Schwarzmayr, Thomas (Author) , Smet, Joel (Author) , Staufner, Christian (Author) , Stenton, Sarah L. (Author) , Strom, Tim M. (Author) , Terrile, Caterina (Author) , Tort, Frederic (Author) , Van Coster, Rudy (Author) , Vanlander, Arnaud (Author) , Wagner, Matias (Author) , Xu, Manting (Author) , Fang, Fang (Author) , Ghezzi, Daniele (Author) , Mayr, Johannes A. (Author) , Piekutowska-Abramczuk, Dorota (Author) , Ribes, Antonia (Author) , Roetig, Agnes (Author) , Taylor, Robert W. (Author) , Wortmann, Saskia B. (Author) , Murayama, Kei (Author) , Meitinger, Thomas (Author) , Gagneur, Julien (Author) , Prokisch, Holger (Author) ,


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  9. 9
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    Efficacy and safety of empagliflozin in glycogen storage disease type Ib: data from an international questionnaire by Grünert, Sarah (Author) , Derks, Terry G. J. (Author) , Adrian, Katarina (Author) , Al-Thihli, Khalid (Author) , Ballhausen, Diana (Author) , Bidiuk, Joanna (Author) , Bordugo, Andrea (Author) , Boyer, Monica (Author) , Bratkovic, Drago (Author) , Brunner-Krainz, Michaela (Author) , Burlina, Alberto (Author) , Chakrapani, Anupam (Author) , Corpeleijn, Willemijn (Author) , Cozens, Alison (Author) , Dawson, Charlotte (Author) , Dhamko, Helena (Author) , Milosevic, Maja Djordjevic (Author) , Eiroa, Hernan (Author) , Finezilber, Yael (Author) , Moura de Souza, Carolina Fischinger (Author) , Garcia-Jiménez, Maria Concepción (Author) , Gasperini, Serena (Author) , Haas, Dorothea (Author) , Häberle, Johannes (Author) , Halligan, Rebecca (Author) , Fung, Law Hiu (Author) , Hörbe-Blindt, Alexandra (Author) , Horka, Laura Maria (Author) , Huemer, Martina (Author) , Uçar, Sema Kalkan (Author) , Kecman, Bozica (Author) , Kilavuz, Sebile (Author) , Kriván, Gergely (Author) , Lindner, Martin (Author) , Lüsebrink, Natalia (Author) , Makrilakis, Konstantinos (Author) , Mei-Kwun Kwok, Anne (Author) , Maier, Esther M. (Author) , Maiorana, Arianna (Author) , McCandless, Shawn E. (Author) , Mitchell, John James (Author) , Mizumoto, Hiroshi (Author) , Mundy, Helen (Author) , Ochoa, Carlos (Author) , Pierce, Kathryn (Author) , Fraile, Pilar Quijada (Author) , Regier, Debra (Author) , Rossi, Alessandro (Author) , Santer, René (Author) , Schuman, Hester C. (Author) , Sobieraj, Piotr (Author) , Spenger, Johannes (Author) , Spiegel, Ronen (Author) , Stepien, Karolina M. (Author) , Tal, Galit (Author) , Tanšek, Mojca Zerjav (Author) , Torkar, Ana Drole (Author) , Tchan, Michel (Author) , Thyagu, Santhosh (Author) , Schrier Vergano, Samantha A. (Author) , Vucko, Erika (Author) , Weinhold, Natalie (Author) , Zsidegh, Petra (Author) , Wortmann, Saskia B. (Author) ,


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  10. 10
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    A spoonful of L-fucose: an efficient therapy for GFUS-CDG, a new glycosylation disorder by Feichtinger, René (Author) , Hüllen, Andreas (Author) , Koller, Andreas (Author) , Kotzot, Dieter (Author) , Grote, Valerian (Author) , Rapp, Erdmann (Author) , Hofbauer, Peter (Author) , Brugger, Karin (Author) , Thiel, Christian (Author) , Mayr, Johannes A. (Author) , Wortmann, Saskia B. (Author) ,


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  11. 11
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    Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia by Vaz, Frédéric (Author) , McDermott, John H. (Author) , Alders, Mariëlle (Author) , Wortmann, Saskia Brigitte (Author) , Kölker, Stefan (Author) , Pras-Raves, Mia L. (Author) , Vervaart, Martin A. T. (Author) , van Lenthe, Henk (Author) , Luyf, Angela C. M. (Author) , Elfrink, Hyung L. (Author) , Metcalfe, Kay (Author) , Cuvertino, Sara (Author) , Clayton, Peter E. (Author) , Yarwood, Rebecca (Author) , Lowe, Martin P. (Author) , Lovell, Simon (Author) , Rogers, Richard Curtis (Author) , van Kampen, Antoine H. C. (Author) , Ruiter, Jos P. N. (Author) , Wanders, Ronald J. A. (Author) , Ferdinandusse, Sacha (Author) , van Weeghel, Michel (Author) , Engelen, Marc (Author) , Banka, Siddharth (Author) ,


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  12. 12
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    Eyes on MEGDEL: distinctive basal ganglia involvement in dystonia deafness syndrome by Wortmann, Saskia Brigitte (Author) , Hörster, Friederike (Author) ,


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  13. 13
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    Mutation in mitochondrial ribosomal protein MRPS22 leads to Cornelia de Lange-like phenotype, brain abnormalities and hypertrophic cardiomyopathy by Smits, Paulien (Author) , Saada, Ann (Author) , Wortmann, Saskia B. (Author) , Heister, Angelien J. (Author) , Brink, Maaike (Author) , Pfundt, Rolph (Author) , Miller, Chaya (Author) , Haas, Dorothea (Author) , Hantschmann, Ralph (Author) , Rodenburg, Richard J. T. (Author) , Smeitink, Jan A. M. (Author) , van den Heuvel, Lambert P. (Author) ,


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  14. 14
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    MACS syndrome: a combined collagen and elastin disorder due to abnormal Golgi trafficking by Albrecht, Beate Hilde (Author) , de Brouwer, Arjan P. (Author) , Lefeber, Dirk J. (Author) , Cremer, Kirsten (Author) , Haußer-Siller, Ingrid (Author) , Rossen, Nick (Author) , Wortmann, Saskia B. (Author) , Wevers, Ron A. (Author) , Kornak, Uwe (Author) , Morava, Eva (Author) ,


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