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Treatment Outcomes for Maple Syrup Urine Disease Detected by Newborn Screening Mengler, Katharina; Garbade, Sven F.; Gleich, Florian; Thimm, Eva; May, Petra; Lindner, Martin; Luesebrink, Natalia; Marquardt, Thorsten; Huebner, Vanessa; Kraemer, Johannes; Neugebauer, Julia; Beblo, Skadi; Gillitzer, Claus; Gruenert, Sarah C.; Hennermann, Julia B.; Kamrath, Clemens; Marquardt, Iris; Naeke, Andrea; Murko, Simona; Schmidt, Sebastian; Schnabel, Elena; Lommer-Steinhoff, Svenja; Hoffmann, Georg F.; Beime, Jan; Santer, Rene; Koelker, Stefan; Muetze, Ulrike 分享 收藏
Gain-of-function variants in CLCN7 cause hypopigmentation and lysosomal storage disease Polovitskaya, Maya M.; Rana, Tanushka; Ullrich, Kurt; Murko, Simona; Bierhals, Tatjana; Vogt, Guido; Stauber, Tobias; Kubisch, Christian; Santer, Rene; Jentsch, Thomas J. 分享 收藏
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Deoxyguanosine kinase deficiency: natural history and liver transplant outcome Manzoni, Eleonora; Carli, Sara; Gaignard, Pauline; Schlieben, Lea Dewi; Hirano, Michio; Ronchi, Dario; Gonzales, Emmanuel; Shimura, Masaru; Murayama, Kei; Okazaki, Yasushi; Baric, Ivo; Ramadza, Danijela Petkovic; Karall, Daniela; Mayr, Johannes; Martinelli, Diego; La Morgia, Chiara; Primiano, Guido; Santer, Rene; Servidei, Serenella; Bris, Celine; Cano, Aline; Furlan, Francesca; Gasperini, Serena; Laborde, Nolwenn; Lamperti, Costanza; Lenz, Dominic; Mancuso, Michelangelo; Montano, Vincenzo; Menni, Francesca; Musumeci, Olimpia; Nesbitt, Victoria; Procopio, Elena; Rouzier, Cecile; Staufner, Christian; Taanman, Jan-Willem; Tal, Galit; Ticci, Chiara; Cordelli, Duccio Maria; Carelli, Valerio; Procaccio, Vincent; Prokisch, Holger; Garone, Caterina 分享 收藏
Neurological outcome in long-chain hydroxy fatty acid oxidation disorders Muetze, Ulrike; Ottenberger, Alina; Gleich, Florian; Maier, Esther M.; Lindner, Martin; Husain, Ralf A.; Palm, Katja; Beblo, Skadi; Freisinger, Peter; Santer, Rene; Thimm, Eva; vom Dahl, Stephan; Weinhold, Natalie; Grohmann-Held, Karina; Haase, Claudia; Hennermann, Julia B.; Hoerbe-Blindt, Alexandra; Kamrath, Clemens; Marquardt, Iris; Marquardt, Thorsten; Behne, Robert; Haas, Dorothea; Spiekerkoetter, Ute; Hoffmann, Georg F.; Garbade, Sven F.; Gruenert, Sarah C.; Koelker, Stefan 分享 收藏
Genetic landscape of pediatric acute liver failure of indeterminate origin Lenz, Dominic; Schlieben, Lea D.; Shimura, Masaru; Bianzano, Alyssa; Smirnov, Dmitrii; Kopajtich, Robert; Berutti, Riccardo; Adam, Ruediger; Aldrian, Denise; Baric, Ivo; Baumann, Ulrich; Bozbulut, Neslihan E.; Brugger, Melanie; Brunet, Theresa; Bufler, Philip; Birute, Burnyte; Calvo, Pier L.; Crushell, Ellen; Dalgic, Buket; Das, Anibh M.; Dezsofi, Antal; Distelmaier, Felix; Fichtner, Alexander; Freisinger, Peter; Garbade, Sven F.; Gaspar, Harald; Goujon, Louise; Hadzic, Nedim; Hartleif, Steffen; Hegen, Bianca; Hempel, Maja; Henning, Stephan; Hoerning, Andre; Houwen, Roderick; Hughes, Joanne; Iorio, Raffaele; Iwanicka-Pronicka, Katarzyna; Jankofsky, Martin; Junge, Norman; Kanavaki, Ino; Kansu, Aydan; Kaspar, Sonja; Kathemann, Simone; Kelly, Deidre; Kirsaclioglu, Ceyda T.; Knoppke, Birgit; Kohl, Martina; Koelbel, Heike; Koelker, Stefan; Konstantopoulou, Vassiliki; Krylova, Tatiana; Kuloglu, Zarife; Kuster, Alice; Laass, Martin W.; Lainka, Elke; Lurz, Eberhard; Mandel, Hanna; Mayerhanser, Katharina; Mayr, Johannes A.; McKiernan, Patrick; McClean, Patricia; McLin, Valerie; Mention, Karine; Mueller, Hanna; Pasquier, Laurent; Pavlov, Martin; Pechatnikova, Natalia; Peters, Bianca; Petkovic Ramadza, Danijela; Piekutowska-Abramczuk, Dorota; Pilic, Denisa; Rajwal, Sanjay; Rock, Nathalie; Roetig, Agnes; Santer, Rene; Schenk, Wilfried; Semenova, Natalia; Sokollik, Christiane; Sturm, Ekkehard; Taylor, Robert W.; Tschiedel, Eva; Urbonas, Vaidotas; Urreizti, Roser; Vermehren, Jan; Vockley, Jerry; Vogel, Georg-Friedrich; Wagner, Matias; van der Woerd, Wendy; Wortmann, Saskia B.; Zakharova, Ekaterina; Hoffmann, Georg F.; Meitinger, Thomas; Murayama, Kei; Staufner, Christian; Prokisch, Holger 分享 收藏
Expanding the phenotypic and biochemical spectrum of NDUFAF3-related mitochondrial disease van der Ven, Amelie T.; Cabrera-Orefice, Alfredo; Wente, Isabell; Feichtinger, Rene G.; Tsiakas, Konstantinos; Weiss, Deike; Bierhals, Tatjana; Scholle, Leila; Prokisch, Holger; Kopajtich, Robert; Santer, Rene; Mayr, Johannes A.; Hempel, Maja; Wittig, Ilka 分享 收藏
CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients Ammer, Luise Sophie; Taeuber, Karolin; Perez, Anna; Dohrmann, Thorsten; Denecke, Jonas; Santer, Rene; Bluemlein, Ulrike; Ozga, Ann-Kathrin; Pohl, Sandra; Muschol, Nicole Maria 分享 收藏
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023) Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia 分享 收藏
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroeter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueler, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Roetig, Agnes; Santer, Rene; Scaglia, Fernando; Sehiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmann, Saskia 分享 收藏
The motor system is exceptionally vulnerable to absence of the ubiquitously expressed superoxide dismutase-1 Park, Julien H.; Nordstroem, Ulrika; Tsiakas, Konstantinos; Keskin, Isil; Elpers, Christiane; Mannil, Manoj; Heller, Raoul; Nolan, Melinda; Alburaiky, Salam; Zetterstroem, Per; Hempel, Maja; Schara-Schmidt, Ulrike; Biskup, Saskia; Steinacker, Petra; Otto, Markus; Weishaupt, Jochen; Hahn, Andreas; Santer, Rene; Marquardt, Thorsten; Marklund, Stefan L.; Andersen, Peter M. 分享 收藏
Effects of Infantile Hypophosphatasia on Human Dental Tissue Woelfel, Eva Maria; von Kroge, Simon; Matthies, Levi; Koehne, Till; Petz, Karin; Beikler, Thomas; Schmid-Herrmann, Carmen Ulrike; Kahl-Nieke, Baerbel; Tsiakas, Konstantinos; Santer, Rene; Muschol, Nicole Maria; Herrmann, Jochen; Busse, Bjoern; Amling, Michael; Rolvien, Tim; Jandl, Nico Maximilian; Barvencik, Florian 分享 收藏
Pathogenic variants in GCSH encoding the moonlighting H-protein cause combined nonketotic hyperglycinemia and lipoate deficiency Arribas-Carreira, Laura; Dallabona, Cristina; Swanson, Michael A.; Farris, Joseph; Ostergaard, Elsebet; Tsiakas, Konstantinos; Hempel, Maja; Aquaviva-Bourdain, Cecile; Koutsoukos, Stefanos; Stence, Nicholas, V; Magistrati, Martina; Spector, Elaine B.; Kronquist, Kathryn; Christensen, Mette; Karstensen, Helena G.; Feichtinger, Rene G.; Achleitner, Melanie T.; Merritt, J. Lawrence; Perez, Belen; Ugarte, Magdalena; Grunewald, Stephanie; Riela, Anthony R.; Julve, Natalia; Arnoux, Jean-Baptiste; Haldar, Kasturi; Donnini, Claudia; Santer, Rene; Lund, Allan M.; Mayr, Johannes A.; Rodriguez-Pombo, Pilar; Van Hove, Johan L. K. 分享 收藏
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier Bolsterli, Bigna K.; Boltshauser, Eugen; Palmieri, Luigi; Spenger, Johannes; Brunner-Krainz, Michaela; Distelmaier, Felix; Freisinger, Peter; Geis, Tobias; Gropman, Andrea L.; Haberle, Johannes; Hentschel, Julia; Jeandidier, Bruno; Karall, Daniela; Keren, Boris; Klabunde-Cherwon, Annick; Konstantopoulou, Vassiliki; Kottke, Raimund; Lasorsa, Francesco M.; Makowski, Christine; Mignot, Cyril; Tuura, Ruth O'Gorman; Porcelli, Vito; Santer, Rene; Sen, Kuntal; Steinbruecker, Katja; Syrbe, Steffen; Wagner, Matias; Ziegler, Andreas; Zoeggeler, Thomas; Mayr, Johannes A.; Prokisch, Holger; Wortmann, Saskia B. 分享 收藏
Efficacy and safety of empagliflozin in glycogen storage disease type Ib: Data from an international questionnaire 依格列净治疗Ib型糖原贮积病的疗效和安全性: 来自国际问卷的数据 Gruenert, Sarah C.; Derks, Terry G. J.; Adrian, Katarina; Al-Thihli, Khalid; Ballhausen, Diana; Bidiuk, Joanna; Bordugo, Andrea; Boyer, Monica; Bratkovic, Drago; Brunner-Krainz, Michaela; Burlina, Alberto; Chakrapani, Anupam; Corpeleijn, Willemijn; Cozens, Alison; Dawson, Charlotte; Dhamko, Helena; Milosevic, Maja Djordjevic; Eiroa, Hernan; Finezilber, Yael; Moura de Souza, Carolina Fischinger; Concepcion Garcia-Jimenez, Maria; Gasperini, Serena; Haas, Dorothea; Haeberle, Johannes; Halligan, Rebecca; Fung, Law Hiu; Hoerbe-Blindt, Alexandra; Horka, Laura Maria; Huemer, Martina; Ucar, Sema Kalkan; Kecman, Bozica; Kilavuz, Sebile; Krivan, Gergely; Lindner, Martin; Luesebrink, Natalia; Makrilakis, Konstantinos; Kwok, Anne Mei-Kwun; Maier, Esther M.; Maiorana, Arianna; McCandless, Shawn E.; Mitchell, John James; Mizumoto, Hiroshi; Mundy, Helen; Ochoa, Carlos; Pierce, Kathryn; Quijada Fraile, Pilar; Regier, Debra; Rossi, Alessandro; Santer, Rene; Schuman, Hester C.; Sobieraj, Piotr; Spenger, Johannes; Spiegel, Ronen; Stepien, Karolina M.; Tal, Galit; Tansek, Mojca Zerjav; Torkar, Ana Drole; Tchan, Michel; Thyagu, Santhosh; Vergano, Samantha A. Schrier; Vucko, Erika; Weinhold, Natalie; Zsidegh, Petra; Wortmann, Saskia B. 分享 收藏
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Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia Huebschmann, Oya Kuseyri; Julia-Palacios, Natalia Alexandra; Olivella, Mireia; Guder, Philipp; Zafeiriou, Dimitrios I.; Horvath, Gabriella; Kulhanek, Jan; Pearson, Toni S.; Kuster, Alice; Cortes-Saladelafont, Elisenda; Ibanez, Salvador; Garcia-Jimenez, Maria Concepcion; Honzik, Tomas; Santer, Rene; Jeltsch, Kathrin; Garbade, Sven F.; Hoffmann, Georg F.; Opladen, Thomas; Garcia-Cazorla, Angeles 分享 收藏
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