A multinational study of acute and long‐term outcomes of Type 1 galactosemia patients who carry the S135L (c.404C > T) variant of GALT by Katler, Quinton S., Stepien, Karolina M., Paull, Nathan, Patel, Sneh, Adams, Michael, Balci, Mehmet Cihan, Berry, Gerard T., Bosch, Annet M., DeLaO, Angela, Demirbas, Didem, Edman, Julianna, Ficicioglu, Can, Goff, Melanie, Hacker, Stephanie, Knerr, Ina, Lancaster, Kristen, Li, Hong, Mendelsohn, Bryce A., Nichols, Brandi, Rezende Pinto, Wladimir Bocca Vieira, Rocha, Júlio César, Rubio‐Gozalbo, M. Estela, Saad‐Naguib, Michael, Scholl‐Buergi, Sabine, Searcy, Sarah, Souza, Paulo Victor Sgobbi, Wittenauer, Angela, Fridovich‐Keil, Judith L.

Get full text

Changes in the Cerebrospinal Fluid and Plasma Lipidome in Patients with Rett Syndrome by Zandl-Lang, Martina, Züllig, Thomas, Trötzmüller, Martin, Naegelin, Yvonne, Abela, Lucia, Wilken, Bernd, Scholl-Buergi, Sabine, Karall, Daniela, Kappos, Ludwig, Köfeler, Harald, Plecko, Barbara

Get full text

Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies by Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva

Get full text

A novel therapeutic approach for LPIN1 mutation-associated rhabdomyolysis-The Austrian experience by Pichler, Karin, Scholl-Buergi, Sabine, Birnbacher, Robert, Freilinger, Michael, Straub, Simon, Brunner, Jürgen, Zschocke, Johannes, Bittner, Reginald E., Karall, Daniela

Get full text

Gastric lactobezoar - a rare disorder? by Heinz-Erian, Peter, Gassner, Ingmar, Klein-Franke, Andreas, Jud, Veronika, Trawoeger, Rudolf, Niederwanger, Christian, Mueller, Thomas, Meister, Bernhard, Scholl-Buergi, Sabine

Get full text

The diagnosis and management of patients with idiopathic osteolysis by Al Kaissi, Ali, Scholl-Buergi, Sabine, Biedermann, Rainer, Maurer, Kathrin, Hofstaetter, Jochen G, Klaushofer, Klaus, Grill, Franz

Get full text

Guidelines for the diagnosis and management of methylmalonic acidaemia and propionic acidaemia: First revision by Forny, Patrick, Hörster, Friederike, Ballhausen, Diana, Chakrapani, Anupam, Chapman, Kimberly A., Dionisi‐Vici, Carlo, Dixon, Marjorie, Grünert, Sarah C., Grunewald, Stephanie, Haliloglu, Goknur, Hochuli, Michel, Honzik, Tomas, Karall, Daniela, Martinelli, Diego, Molema, Femke, Sass, Jörn Oliver, Scholl‐Bürgi, Sabine, Tal, Galit, Williams, Monique, Huemer, Martina, Baumgartner, Matthias R.

Get full text

Very long-/ and long Chain-3-Hydroxy Acyl CoA Dehydrogenase Deficiency correlates with deregulation of the mitochondrial fusion/fission machinery by Hagenbuchner, Judith, Scholl-Buergi, Sabine, Karall, Daniela, Ausserlechner, Michael J.

Get full text

Proposed guidelines for the diagnosis and management of methylmalonic and propionic acidemia by Baumgartner, Matthias R, Hörster, Friederike, Dionisi-Vici, Carlo, Haliloglu, Goknur, Karall, Daniela, Chapman, Kimberly A, Huemer, Martina, Hochuli, Michel, Assoun, Murielle, Ballhausen, Diana, Burlina, Alberto, Fowler, Brian, Grünert, Sarah C, Grünewald, Stephanie, Honzik, Tomas, Merinero, Begoña, Pérez-Cerdá, Celia, Scholl-Bürgi, Sabine, Skovby, Flemming, Wijburg, Frits, MacDonald, Anita, Martinelli, Diego, Sass, Jörn Oliver, Valayannopoulos, Vassili, Chakrapani, Anupam

Get full text

Altered gut microbiome diversity and function in patients with propionic acidemia by Tims, Sebastian, Marsaux, Cyril, Pinto, Alex, Daly, Anne, Karall, Daniela, Kuhn, Mirjam, Santra, Saikat, Roeselers, Guus, Knol, Jan, MacDonald, Anita, Scholl-Bürgi, Sabine

Get full text

Amino Acid Profiles and Compositions of Different Cultivars of Panicum miliaceum L by Wiedemair, Verena, Scholl-Bürgi, Sabine, Karall, Daniela, Huck, Christian W.

Get full text

Simultaneous measurement of phenylalanine and tyrosine by high performance liquid chromatography (HPLC) with fluorescence detection by Neurauter, Gabriele, Scholl-Bürgi, Sabine, Haara, Astrid, Geisler, Simon, Mayersbach, Peter, Schennach, Harald, Fuchs, Dietmar

Get full text

Familial hypercholesterolemia: A systematic review of modeling studies on screening interventions by Jahn, Beate, Santamaria, Júlia, Dieplinger, Hans, Binder, Christoph J., Ebenbichler, Christoph, Scholl-Bürgi, Sabine, Conrads-Frank, Annette, Rochau, Ursula, Kühne, Felicitas, Stojkov, Igor, Todorovic, Jovan, James, Lyndon, Siebert, Uwe

Get full text

Three new cases of late-onset cblC defect and review of the literature illustrating when to consider inborn errors of metabolism beyond infancy by Huemer, Martina, Scholl-Bürgi, Sabine, Hadaya, Karine, Kern, Ilse, Beer, Ronny, Seppi, Klaus, Fowler, Brian, Baumgartner, Matthias R, Karall, Daniela

Get full text

CMG2/ANTXR2 regulates extracellular collagen VI which accumulates in hyaline fibromatosis syndrome by Bürgi, Jérôme, Kunz, Béatrice, Abrami, Laurence, Deuquet, Julie, Piersigilli, Alessandra, Scholl-Bürgi, Sabine, Lausch, Ekkehart, Unger, Sheila, Superti-Furga, Andrea, Bonaldo, Paolo, van der Goot, F. Gisou

Get full text

SARS‐CoV‐2 infection in a 7‐year‐old girl with pancytopenia during acute lymphocytic leukemia maintenance therapy by Bernar, Benoît, Kropshofer, Gabriele, Crazzolara, Roman, Kapelari, Klaus, Griesmacher, Andrea, Müller, Thomas, Scholl‐Bürgi, Sabine

Request full text

The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: the initial presentation by Kölker, Stefan, Cazorla, Angeles Garcia, Valayannopoulos, Vassili, Lund, Allan M., Burlina, Alberto B., Sykut-Cegielska, Jolanta, Wijburg, Frits A., Teles, Elisa Leão, Zeman, Jiri, Dionisi-Vici, Carlo, Barić, Ivo, Karall, Daniela, Augoustides-Savvopoulou, Persephone, Aksglaede, Lise, Arnoux, Jean-Baptiste, Avram, Paula, Baumgartner, Matthias R., Blasco-Alonso, Javier, Chabrol, Brigitte, Chakrapani, Anupam, Chapman, Kimberly, i Saladelafont, Elisenda Cortès, Couce, Maria L., de Meirleir, Linda, Dobbelaere, Dries, Dvorakova, Veronika, Furlan, Francesca, Gleich, Florian, Gradowska, Wanda, Grünewald, Stephanie, Jalan, Anil, Häberle, Johannes, Haege, Gisela, Lachmann, Robin, Laemmle, Alexander, Langereis, Eveline, de Lonlay, Pascale, Martinelli, Diego, Matsumoto, Shirou, Mühlhausen, Chris, de Baulny, Hélène Ogier, Ortez, Carlos, Peña-Quintana, Luis, Ramadža, Danijela Petković, Rodrigues, Esmeralda, Scholl-Bürgi, Sabine, Sokal, Etienne, Staufner, Christian, Summar, Marshall L., Thompson, Nicholas, Vara, Roshni, Pinera, Inmaculada Vives, Walter, John H., Williams, Monique, Burgard, Peter

Get full text

Familial hypercholesterolaemia in children and adolescents from 48 countries: a cross-sectional study by Lyons, Alexander R.M., Aguilar-Salinas, Carlos A., Alkhnifsawi, Mutaz, Alonso, Rodrigo, Harada-Shiba, Mariko, Miserez, André R., Panayiotou, Andrie G., Reyes, Ximena, Schunkert, Heribert, Subramaniam, Tavintharan, Tselepis, Alexandros D., Latkovskis, Gustavs, Petrulioniene, Zaneta, Tybjærg-Hansen, Anne, Hovingh, G. Kees, Mata, Pedro, Raal, Frederick, Bañares, Virginia, Greber-Platzer, Susanne, Baumgartner-Kaut, Margot, Innerhofer, Reinhold, Mäser, Martin, Scholl-Bürgi, Sabine, Tisheva, Snejana, Tzvetkov, Ivajlo, Gaudet, Daniel, McCrindle, Brian, Vrablik, Michal, Ferrières, Jean, Aouchiche, Karine, Moulin, Philippe, Cariou, Bertrand, Verges, Bruno, Durlach, Vincent, Sultan, Ariane, Rizos, Christos V., Skalidis, Emmanouil, Zacharis, Evangelos, Milionis, Haralambos, Shah, Swarup A. V, Arca, Marcello, Tarugi, Patrizia, Casula, Manuela, Gazzotti, Marta, Ferri, Claudio, Passaro, Angelina, Pecchioli, Valerio, Mombelli, Giuliana, Iughetti, Lorenzo, Cavallaro, Raimondo, Iannuzzo, Gabriella, Benso, Andrea, Rinaldi, Elisabetta, Nor, Noor Shafina Mohd, Martagon, Alexandro J., Ferreira-Hermosillo, Aldo, Portilla, Nacu Caracas, Arriaga Cazares, Hector E., Prado, Ramon Madriz, Carrera, Ricardo Allende, Amezcua Martinez, Jose C., Vargas, Gonzalo Carazo, Figueroa Andrade, Mario H., Alcala, Hector Garcia, Holguin Almada, Jesus R., Herrera, Ursulo Juarez, Rodriguez, Eduardo Marquez, Osorio, Ma. Ludivina Robles, Saucedo, Juan Rosas, Tamayo, Margarita Torres, Zepeda Carrillo, Eloy A., Bogsrud, Martin P., Rana, Muhammad Asim, Gach, Agnieszka, Chlebus, Izabela, Kleinschmidt, Mariola, Zdrojewski, Tomasz, Medeiros, Ana Margarida, Bilhoto, Carla, Lobarinhas, Goreti, Gama, Guida, Salgado, José Miguel, Virtuoso, Maria João, Correia, Susana, Alammari, Dalal, Alrowaily, Nawal Lafi, Vasanwala, Rashida Farhan, Venkatesh, Sreedharan Aravind, Kozárová, Miriam, Varga, Tibor, Gonova, Katarina, Sikonja, Jaka, Muñiz-Grijalvo, Ovidio, Miserez, Eleonore B., Futema, Marta, Nizamov, Ulugbek I., Kan, Liliya E., Zakirova, Daria V., Le, Hong-An, Ray, Kausik K.

Get full text

Loss of CD4+ T cell-intrinsic arginase 1 accelerates Th1 response kinetics and reduces lung pathology during influenza infection by West, Erin E., Merle, Nicolas S., Kamiński, Marcin M., Palacios, Gustavo, Kumar, Dhaneshwar, Wang, Luopin, Bibby, Jack A., Overdahl, Kirsten, Jarmusch, Alan K., Freeley, Simon, Lee, Duck-Yeon, Thompson, J. Will, Yu, Zu-Xi, Taylor, Naomi, Sitbon, Marc, Green, Douglas R., Bohrer, Andrea, Mayer-Barber, Katrin D., Afzali, Behdad, Kazemian, Majid, Scholl-Buergi, Sabine, Karall, Daniela, Huemer, Martina, Kemper, Claudia

Get full text

Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision by Boy, Nikolas, Mühlhausen, Chris, Maier, Esther M., Ballhausen, Diana, Baumgartner, Matthias R., Beblo, Skadi, Burgard, Peter, Chapman, Kimberly A., Dobbelaere, Dries, Heringer‐Seifert, Jana, Fleissner, Sandra, Grohmann‐Held, Karina, Hahn, Gabriele, Harting, Inga, Hoffmann, Georg F., Jochum, Frank, Karall, Daniela, Konstantopoulous, Vassiliki, Krawinkel, Michael B., Lindner, Martin, Märtner, E. M. Charlotte, Nuoffer, Jean‐Marc, Okun, Jürgen G., Plecko, Barbara, Posset, Roland, Sahm, Katja, Scholl‐Bürgi, Sabine, Thimm, Eva, Walter, Magdalena, Williams, Monique, vom Dahl, Stephan, Ziagaki, Athanasia, Zschocke, Johannes, Kölker, Stefan

Get full text