Impact of newborn screening and quality of therapy on the neurological outcome in glutaric aciduria type 1: a meta-analysis

door Boy, Nikolas, Mengler, Katharina, Heringer-Seifert, Jana, Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan
Gepubliceerd in Genet Med (2020)

Cross-sectional quantitative analysis of the natural history of TUBA1A and TUBB2B tubulinopathies

door Schröter, Julian, Döring, Jan H., Garbade, Sven F., Hoffmann, Georg F., Kölker, Stefan, Ries, Markus, Syrbe, Steffen
Gepubliceerd in Genet Med (2020)

FDA orphan drug designations for lysosomal storage disorders – a cross-sectional analysis

door Garbade, Sven F., Zielonka, Matthias, Mechler, Konstantin, Kölker, Stefan, Hoffmann, Georg F., Staufner, Christian, Mengel, Eugen, Ries, Markus
Gepubliceerd in PLoS One (2020)

Impairment of cognitive function in ornithine transcarbamylase deficiency is global rather than domain-specific and is associated with disease onset, sex, maximum ammonium, and num...

door Buerger, Corinna, Garbade, Sven F., Alber, Fabienne Dietrich, Waisbren, Susan E., McCarter, Robert, Kölker, Stefan, Burgard, Peter
Gepubliceerd in J Inherit Metab Dis (2019)

A cross-sectional controlled developmental study of neuropsychological functions in patients with glutaric aciduria type I

door Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan, Burgard, Peter
Gepubliceerd in Orphanet J Rare Dis (2015)

Blood Trimethylamine-N-Oxide Originates from Microbiota Mediated Breakdown of Phosphatidylcholine and Absorption from Small Intestine

door Stremmel, Wolfgang, Schmidt, Kathrin V., Schuhmann, Vera, Kratzer, Frank, Garbade, Sven F., Langhans, Claus-Dieter, Fricker, Gert, Okun, Jürgen G.
Gepubliceerd in PLoS One (2017)

Incidence, disease onset and short-term outcome in urea cycle disorders –cross-border surveillance in Germany, Austria and Switzerland

door Nettesheim, Susanne, Kölker, Stefan, Karall, Daniela, Häberle, Johannes, Posset, Roland, Hoffmann, Georg F., Heinrich, Beate, Gleich, Florian, Garbade, Sven F.
Gepubliceerd in Orphanet J Rare Dis (2017)

Early prediction of phenotypic severity in Citrullinemia Type 1

door Zielonka, Matthias, Kölker, Stefan, Gleich, Florian, Stützenberger, Nicolas, Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Garbade, Sven F., Posset, Roland
Gepubliceerd in Ann Clin Transl Neurol (2019)

From genotype to phenotype: Early prediction of disease severity in argininosuccinic aciduria

door Zielonka, Matthias, Garbade, Sven F., Gleich, Florian, Okun, Jürgen G., Nagamani, Sandesh C. S., Gropman, Andrea L., Hoffmann, Georg F., Kölker, Stefan, Posset, Roland
Gepubliceerd in Hum Mutat (2020)

Extended diagnosis of purine and pyrimidine disorders from urine: LC MS/MS assay development and clinical validation

door Monostori, Péter, Klinke, Glynis, Hauke, Jana, Richter, Sylvia, Bierau, Jörgen, Garbade, Sven F., Hoffmann, Georg F., Langhans, Claus-Dieter, Haas, Dorothea, Okun, Jürgen G.
Gepubliceerd in PLoS One (2019)

Severity-adjusted evaluation of newborn screening on the metabolic disease course in individuals with cytosolic urea cycle disorders

door Posset, Roland, Kölker, Stefan, Gleich, Florian, Okun, Jürgen G., Gropman, Andrea L., Nagamani, Sandesh C. S., Scharre, Svenja, Probst, Joris, Walter, Magdalena E., Hoffmann, Georg F., Garbade, Sven F., Zielonka, Matthias
Gepubliceerd in Mol Genet Metab (2020)

Long-term effects of medical management on growth and weight in individuals with urea cycle disorders

door Posset, Roland, Garbade, Sven F., Gleich, Florian, Gropman, Andrea L., de Lonlay, Pascale, Hoffmann, Georg F., Garcia-Cazorla, Angeles, Nagamani, Sandesh C. S., Baumgartner, Matthias R., Schulze, Andreas, Dobbelaere, Dries, Yudkoff, Marc, Kölker, Stefan, Zielonka, Matthias
Gepubliceerd in Sci Rep (2020)

A Global Cndp1-Knock-Out Selectively Increases Renal Carnosine and Anserine Concentrations in an Age- and Gender-Specific Manner in Mice

door Weigand, Tim, Colbatzky, Florian, Pfeffer, Tilman, Garbade, Sven F., Klingbeil, Kristina, Colbatzky, Florian, Becker, Michael, Zemva, Johanna, Bulkescher, Ruben, Schürfeld, Robin, Thiel, Christian, Volk, Nadine, Reuss, David, Hoffmann, Georg F., Freichel, Marc, Hecker, Markus, Poth, Tanja, Fleming, Thomas, Poschet, Gernot, Schmitt, Claus P., Peters, Verena
Gepubliceerd in Int J Mol Sci (2020)

Impact of diagnosis and therapy on cognitive function in urea cycle disorders

door Posset, Roland, Gropman, Andrea L., Nagamani, Sandesh C.S., Burrage, Lindsay C., Bedoyan, Jirair K., Wong, Derek, Berry, Gerard T., Baumgartner, Matthias R., Yudkoff, Marc, Zielonka, Matthias, Hoffmann, Georg F., Burgard, Peter, Schulze, Andreas, McCandless, Shawn E., Garcia-Cazorla, Angeles, Seminara, Jennifer, Garbade, Sven F., Kölker, Stefan
Gepubliceerd in Ann Neurol (2019)

Transatlantic combined and comparative data analysis of 1095 patients with urea cycle disorders – a successful strategy for clinical research of rare diseases

door Posset, Roland, Garbade, Sven F., Boy, Nikolas, Burlina, Alberto B., Dionisi-Vici, Carlo, Dobbelaere, Dries, Garcia-Cazorla, Angeles, de Lonlay, Pascale, Teles, Elisa Leão, Vara, Roshni, Mew, Nicholas Ah, Batshaw, Mark L., Baumgartner, Matthias R., McCandless, Shawn, Seminara, Jennifer, Summar, Marshall, Hoffmann, Georg F., Kölker, Stefan, Burgard, Peter
Gepubliceerd in J Inherit Metab Dis (2019)

Prevalence of SARS-CoV-2 Infection in Children and Their Parents in Southwest Germany

door Tönshoff, Burkhard, Müller, Barbara, Elling, Roland, Renk, Hanna, Meissner, Peter, Hengel, Hartmut, Garbade, Sven F., Kieser, Meinhard, Jeltsch, Kathrin, Grulich-Henn, Jürgen, Euler, Julia, Stich, Maximilian, Chobanyan-Jürgens, Kristine, Zernickel, Maria, Janda, Aleš, Wölfle, Lena, Stamminger, Thomas, Iftner, Thomas, Ganzenmueller, Tina, Schmitt, Christian, Görne, Tessa, Laketa, Vibor, Olberg, Sylvia, Plaszczyca, Anna, Cortese, Mirko, Bartenschlager, Ralf, Pape, Constantin, Remme, Roman, Huzly, Daniela, Panning, Marcus, Weigang, Sebastian, Giese, Sebastian, Ciminski, Kevin, Ankerhold, Jakob, Kochs, Georg, Schwemmle, Martin, Handgretinger, Rupert, Niemeyer, Charlotte M., Engel, Corinna, Kern, Winfried V., Hoffmann, Georg Friedrich, Franz, Axel R., Henneke, Philipp, Debatin, Klaus-Michael, Kräusslich, Hans-Georg
Gepubliceerd in JAMA Pediatr (2021)

The Genetic Landscape and Epidemiology of Phenylketonuria

door Hillert, Alicia, Anikster, Yair, Belanger-Quintana, Amaya, Burlina, Alberto, Burton, Barbara K., Carducci, Carla, Chiesa, Ana E., Christodoulou, John, Đorđević, Maja, Desviat, Lourdes R., Eliyahu, Aviva, Evers, Roeland A.F., Fajkusova, Lena, Feillet, François, Bonfim-Freitas, Pedro E., Giżewska, Maria, Gundorova, Polina, Karall, Daniela, Kneller, Katya, Kutsev, Sergey I., Leuzzi, Vincenzo, Levy, Harvey L., Lichter-Konecki, Uta, Muntau, Ania C., Namour, Fares, Oltarzewski, Mariusz, Paras, Andrea, Perez, Belen, Polak, Emil, Polyakov, Alexander V., Porta, Francesco, Rohrbach, Marianne, Scholl-Bürgi, Sabine, Spécola, Norma, Stojiljković, Maja, Shen, Nan, Santana-da Silva, Luiz C., Skouma, Anastasia, van Spronsen, Francjan, Stoppioni, Vera, Thöny, Beat, Trefz, Friedrich K., Vockley, Jerry, Yu, Youngguo, Zschocke, Johannes, Hoffmann, Georg F., Garbade, Sven F., Blau, Nenad
Gepubliceerd in Am J Hum Genet (2020)

Abstracts of the 52nd Workshop for Pediatric Research: Frankfurt, Germany. 27-28 October 2016

door van den Bruck, Rhea, Weil, Patrick P., Ziegenhals, Thomas, Schreiner, Philipp, Juranek, Stefan, Gödde, Daniel, Vogel, Silvia, Schuster, Frauke, Orth, Valerie, Dörner, Johannes, Pembaur, Daniel, Röper, Meike, Störkel, Stefan, Zirngibl, Hubert, Wirth, Stefan, Jenke, Andreas C. W., Postberg, Jan, Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Burgard, Peter, Kölker, Stefan, Chao, Cho-Ming, Yahya, Faady, Moiseenko, Alena, Shrestha, Amit, Ahmadvand, Negah, Quantius, Jennifer, Wilhelm, Jochen, El-Agha, Elie, Zimmer, Klaus-Peter, Bellusci, Saverio, Staufner, Christian, Kölker, Stefan, Prokisch, Holger, Hoffmann, Georg F., Seeliger, Stephan, Müller, Matthias, Hippe, Andreas, Steinkraus, Henrik, Wauer, Roland, Lachmann, Burkhard, Hofmann, Sigrun R., Hedrich, Christian M., Zierk, Jakob, Arzideh, Farhad, Haeckel, Rainer, Rascher, Wolfgang, Rauh, Manfred, Metzler, Markus, Thieme, Sebastian, Bandoła, Joanna, Richter, Cornelia, Ryser, Martin, Jamal, Arshad, Ashton, Michelle P., von Bonin, Malte, Kuhn, Matthias, Hedrich, Christian M., Bonifacio, Ezio, Berner, Reinhard, Brenner, Sebastian, Hammersen, Johanna, Has, Cristina, Naumann-Bartsch, Nora, Stachel, Daniel, Kiritsi, Dimitra, Söder, Stephan, Tardieu, Mathilde, Metzler, Markus, Bruckner-Tuderman, Leena, Schneider, Holm, Bohne, F., Langer, D., Cencic, R., Eggermann, T., Zechner, U., Pelletier, J., Zepp, F., Enklaar, T., Prawitt, D., Pech, Martin, Weckmann, Markus, Heinsen, Femke-Anouska, Franke, Andre, Happle, Christine, Dittrich, Anna-Maria, Hansen, Gesine, Fuchs, Oliver, von Mutius, Erika, Oliver, Brian G., Kopp, Matthias V., Paret, Claudia, Russo, Alexandra, Theruvath, Johanna, Keller, Bettina, El Malki, Khalifa, Lehmann, Nadine, Wingerter, Arthur, Neu, Marie A., Aslihan, Gerhold-Ay, Wagner, Wolfgang, Sommer, Clemens, Pietsch, Torsten, Seidmann, Larissa, Faber, Jörg, Schreiner, Felix, Ackermann, Merle, Michalik, Michael, Rother, Eva, Bilkei-Gorzo, Andras, Racz, Ildiko, Bindila, Laura, Lutz, Beat, Dötsch, Jörg, Zimmer, Andreas, Woelfle, Joachim, Fischer, Hendrik S., Ullrich, Tim L., Bührer, Christoph, Czernik, Christoph, Schmalisch, Gerd, Stein, Robert, Hofmann, Sigrun R., Hagenbuchner, Judith, Kiechl-Kohlendorfer, Ursula, Obexer, Petra, Ausserlechner, Michael J., Loges, Niki T., Frommer, Adrien Tobias, Wallmeier, Julia, Omran, Heymut, Öner-Sieben, Soner, Gimpfl, Martina, Rozman, Jan, Irmler, Martin, Beckers, Johannes, De Angelis, Martin Hrabe, Roscher, Adelbert, Wolf, Eckhard, Ensenauer, Regina, Nemes, Karolina, Frühwald, Michael, Hasselblatt, Martin, Siebert, Reiner, Kordes, Uwe, Kool, Marcel, Wang, Haicui, Hardy, Holly, Refai, Osama, Barwick, Katy E. S., Zimmerman, Holly H., Weis, Joachim, Baple, Emma L., Crosby, Andrew H., Cirak, Sebahattin, Hellmuth, C., Uhl, O., Standl, M., Heinrich, J., Thiering, E., Koletzko, B., Blümel, Lena, Kerl, Kornelius, Picard, Daniel, Frühwald, Michael C., Liebau, Max C., Reifenberger, Guido, Borkhardt, Arndt, Hasselblatt, Martin, Remke, Marc, Tews, D., Wabitsch, M., Fischer-Posovszky, P., Westhoff, Mike-Andrew, Nonnenmacher, Lisa, Langhans, Julia, Schneele, Lukas, Trenkler, Nancy, Debatin, Klaus-Michael
Gepubliceerd in Mol Cell Pediatr (2017)