FDA orphan drug designations for lysosomal storage disorders - a cross-sectional analysis von Garbade, Sven F, Zielonka, Matthias, Mechler, Konstantin, Kölker, Stefan, Hoffmann, Georg F, Staufner, Christian, Mengel, Eugen, Ries, Markus

Volltext

Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients von Staufner, Christian, Peters, Bianca, Wagner, Matias, Alameer, Seham, Barić, Ivo, Broué, Pierre, Bulut, Derya, Church, Joseph A., Crushell, Ellen, Dalgıç, Buket, Das, Anibh M., Dick, Anke, Dikow, Nicola, Dionisi-Vici, Carlo, Distelmaier, Felix, Bozbulut, Neslihan Ekşi, Feillet, François, Gonzales, Emmanuel, Hadzic, Nedim, Hauck, Fabian, Hegarty, Robert, Hempel, Maja, Herget, Theresia, Klein, Christoph, Konstantopoulou, Vassiliki, Kopajtich, Robert, Kuster, Alice, Laass, Martin W., Lainka, Elke, Larson-Nath, Catherine, Leibner, Alexander, Lurz, Eberhard, Mayr, Johannes A., McKiernan, Patrick, Mention, Karine, Moog, Ute, Mungan, Neslihan Onenli, Riedhammer, Korbinian M., Santer, René, Palafoll, Irene Valenzuela, Vockley, Jerry, Westphal, Dominik S., Wiedemann, Arnaud, Wortmann, Saskia B., Diwan, Gaurav D., Russell, Robert B., Prokisch, Holger, Garbade, Sven F., Kölker, Stefan, Hoffmann, Georg F., Lenz, Dominic

Volltext

Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts von Staufner, Christian, Haack, Tobias B., Köpke, Marlies G., Straub, Beate K., Kölker, Stefan, Thiel, Christian, Freisinger, Peter, Baric, Ivo, McKiernan, Patrick J., Dikow, Nicola, Harting, Inga, Beisse, Flemming, Burgard, Peter, Kotzaeridou, Urania, Lenz, Dominic, Kühr, Joachim, Himbert, Urban, Taylor, Robert W., Distelmaier, Felix, Vockley, Jerry, Ghaloul-Gonzalez, Lina, Ozolek, John A., Zschocke, Johannes, Kuster, Alice, Dick, Anke, Das, Anib M., Wieland, Thomas, Terrile, Caterina, Strom, Tim M., Meitinger, Thomas, Prokisch, Holger, Hoffmann, Georg F.

Volltext

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1 von Lenz, Dominic, Smith, Desirée E. C., Crushell, Ellen, Husain, Ralf A., Salomons, Gajja S., Alhaddad, Bader, Bernstein, Jonathan A., Bianzano, Alyssa, Biskup, Saskia, Brennenstuhl, Heiko, Caldari, Dominique, Dikow, Nicola, Haack, Tobias B., Hanson-Kahn, Andrea, Harting, Inga, Horn, Denise, Hughes, Joanne, Huijberts, Maya, Isidor, Bertrand, Kathemann, Simone, Kopajtich, Robert, Kotzaeridou, Urania, Küry, Sébastien, Lainka, Elke, Laugwitz, Lucia, Lupski, James R., Posey, Jennifer E., Reynolds, Claire, Rosenfeld, Jill A., Schröter, Julian, Vansenne, Fleur, Wagner, Matias, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Wortmann, Saskia B., Kölker, Stefan, Hoffmann, Georg F., Prokisch, Holger, Mendes, Marisa I., Staufner, Christian

Volltext

NBAS Variants Are Associated with Quantitative and Qualitative NK and B Cell Deficiency von Lenz, Dominic, Pahl, Jens, Hauck, Fabian, Alameer, Seham, Balasubramanian, Meena, Baric, Ivo, Boy, Nikolas, Church, Joseph A., Crushell, Ellen, Dick, Anke, Distelmaier, Felix, Gujar, Jidnyasa, Indolfi, Giuseppe, Lurz, Eberhard, Peters, Bianca, Schwerd, Tobias, Serranti, Daniele, Kölker, Stefan, Klein, Christoph, Hoffmann, Georg F., Prokisch, Holger, Greil, Johann, Cerwenka, Adelheid, Giese, Thomas, Staufner, Christian

Volltext

MPV17‐related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects von El‐Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh, Mohammed A. M., Faqeih, Eissa A., Alzaidan, Hamad I., Alshenqiti, Abduljabbar, Flore, Leigh Anne, Hertecant, Jozef, Sacharow, Stephanie, Barbouth, Deborah S., Murayama, Kei, Shah, Amit A., Lin, Henry C., Wong, Lee‐Jun C.

Volltext

Expression of glutamate receptor subunits in human cancers von Stepulak, Andrzej, Luksch, Hella, Gebhardt, Christine, Uckermann, Ortrud, Marzahn, Jenny, Sifringer, Marco, Rzeski, Wojciech, Staufner, Christian, Brocke, Katja S., Turski, Lechoslaw, Ikonomidou, Chrysanthy

Volltext

DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria von Danhauser, Katharina, Sauer, Sven W., Haack, Tobias B., Wieland, Thomas, Staufner, Christian, Graf, Elisabeth, Zschocke, Johannes, Strom, Tim M., Traub, Thorsten, Okun, Jürgen G., Meitinger, Thomas, Hoffmann, Georg F., Prokisch, Holger, Kölker, Stefan

Volltext

Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options von Staufner, Christian, Lindner, Martin, Dionisi-Vici, Carlo, Freisinger, Peter, Dobbelaere, Dries, Douillard, Claire, Makhseed, Nawal, Straub, Beate K., Kahrizi, Kimia, Ballhausen, Diana, la Marca, Giancarlo, Kölker, Stefan, Haas, Dorothea, Hoffmann, Georg F., Grünert, Sarah C., Blom, Henk J.

Volltext

aRgus: Multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment von Schröter, Julian, Dattner, Tal, Hüllein, Jennifer, Jayme, Alejandra, Heuveline, Vincent, Hoffmann, Georg F., Kölker, Stefan, Lenz, Dominic, Opladen, Thomas, Popp, Bernt, Schaaf, Christian P., Staufner, Christian, Syrbe, Steffen, Uhrig, Sebastian, Hübschmann, Daniel, Brennenstuhl, Heiko

Volltext

Pregnancy, delivery, and postpartum period in infantile liver failure syndrome type 2 due to variants in NBAS von Peters, Bianca, Wiemers, Felix, Lenz, Dominic, Kölker, Stefan, Hoffmann, Georg F., Köhler, Siegmund, Staufner, Christian

Volltext

Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 von Lenz, Dominic, Staufner, Christian, Wächter, Selina, Hagedorn, Maike, Ebersold, Juliane, Göhring, Gudrun, Kölker, Stefan, Hoffmann, Georg F., Jung-Klawitter, Sabine

Volltext

Glutamate receptors in pediatric tumors of the central nervous system von Brocke, Katja S., Staufner, Christian, Luksch, Hella, Geiger, Kathrin D., Stepulak, Andrzej, Marzahn, Jenny, Schackert, Gabriele, Temme, Achim, Ikonomidou, Chrysanthy

Volltext

Evaluation of Right Ventricular Function in Patients with Propionic Acidemia-A Cross-Sectional Study von Kovacevic, Alexander, Garbade, Sven F, Hörster, Friederike, Hoffmann, Georg F, Gorenflo, Matthias, Mereles, Derliz, Kölker, Stefan, Staufner, Christian

Volltext

P577: Gene panels for skeletal dysplasia and epilepsy: Maximizing clinical utility through careful design, regular review, and clinician-laboratory collaboration von Tayoun, Ahmad Abou, Aradhya, Swaroop, Bailey, Mitch, Bastaki, Laila, Dosenovic, Sara, Ezgü, Fatih, Izzo, Emmanuela, Lampe, Christina, O'Byrne, James J., Seratti, Guillermo, Snow, Catherine, Staufner, Christian, Striano, Pasquale

Volltext

Response to Spagnoli et al von Lenz, Dominic, Staufner, Christian

Volltext

Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS: DHMCi004-A von Lenz, Dominic, Staufner, Christian, Wächter, Selina, Hagedorn, Maike, Ebersold, Juliane, Göhring, Gudrun, Kölker, Stefan, Hoffmann, Georg F., Jung-Klawitter, Sabine

Volltext

Mutation in ITCH Gene Can Cause Syndromic Multisystem Autoimmune Disease With Acute Liver Failure von Kleine-Eggebrecht, Nicola, Staufner, Christian, Kathemann, Simone, Elgizouli, Magdeldin, Kopajtich, Robert, Prokisch, Holger, Lainka, Elke

Volltext

Disorders of vesicular trafficking presenting with recurrent acute liver failure: NBAS, RINT1, and SCYL1 deficiency von Peters, Bianca, Dattner, Tal, Schlieben, Lea D, Sun, Tian, Staufner, Christian, Lenz, Dominic

Volltext

Physician’s guide to the diagnosis, treatment, and follow-up of inherited metabolic diseases: Editors: Nenad Blau, Marinus Duran, K. Michael Gibson and Carlo Dionisi-Vici von Staufner, Christian, Peters, Verena

Volltext