Impact of glycogen storage disease type I on adult daily life: a survey
Garbade, Sven F, Ederer, Viviane, Burgard, Peter, Wendel, Udo, Spiekerkoetter, Ute, Haas, Dorothea, Grünert, Sarah C
Published in Orphanet journal of rare diseases (03.09.2021)
Published in Orphanet journal of rare diseases (03.09.2021)
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Neonatal mortality and outcome at the end of the first year of life in early onset urea cycle disorders—review and meta-analysis of observational studies published over more than 35 years
Burgard, Peter, Kölker, Stefan, Haege, Gisela, Lindner, Martin, Hoffmann, Georg F.
Published in Journal of inherited metabolic disease (01.03.2016)
Published in Journal of inherited metabolic disease (01.03.2016)
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Efficacy and outcome of expanded newborn screening for metabolic diseases--report of 10 years from South-West Germany
Lindner, Martin, Gramer, Gwendolyn, Haege, Gisela, Fang-Hoffmann, Junmin, Schwab, Karl O, Tacke, Uta, Trefz, Friedrich K, Mengel, Eugen, Wendel, Udo, Leichsenring, Michael, Burgard, Peter, Hoffmann, Georg F
Published in Orphanet journal of rare diseases (20.06.2011)
Published in Orphanet journal of rare diseases (20.06.2011)
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Impact of Diagnosis and Therapy on Cognitive Function in Urea Cycle Disorders
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, Lee, Brendan, Harding, Cary O., Coughlin, Curtis R., Le Mons, Cynthia, Dobbelaere, Dries, Leão Teles, Elisa, Cortès‐Saladelafont, Elisenda, Gleich, Florian, Eyskens, Francois, Enns, Gregory, Wilkening, Greta N., Barić, Ivo, Lawrence Merritt, J., Heringer, Jana, Blasco‐Alonso, Javier, Zeman, Jiri, Häberle, Johannes, Sykut‐Cegielska, Jolanta, Djordjevic, Maja, Batshaw, Mark L., Summar, Marshall, Freisinger, Peter, Gallagher, Renata C., Berry, Susan A., Waisbren, Susan, Stricker, Tamar
Published in Annals of neurology (01.07.2019)
Published in Annals of neurology (01.07.2019)
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Diagnosis and management of glutaric aciduria type I – revised recommendations
Kölker, Stefan, Christensen, Ernst, Leonard, James V., Greenberg, Cheryl R., Boneh, Avihu, Burlina, Alberto B., Burlina, Alessandro P., Dixon, Marjorie, Duran, Marinus, García Cazorla, Angels, Goodman, Stephen I., Koeller, David M., Kyllerman, Mårten, Mühlhausen, Chris, Müller, Edith, Okun, Jürgen G., Wilcken, Bridget, Hoffmann, Georg F., Burgard, Peter
Published in Journal of inherited metabolic disease (01.06.2011)
Published in Journal of inherited metabolic disease (01.06.2011)
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Recurrent acute liver failure due to NBAS deficiency: phenotypic spectrum, disease mechanisms, and therapeutic concepts
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.
Published in Journal of inherited metabolic disease (01.01.2016)
Published in Journal of inherited metabolic disease (01.01.2016)
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An Integrated clinical pathway for diagnosis, treatment and care of rare diseases: model, operating procedures, and results of the project TRANSLATE-NAMSE funded by the German Federal Joint Committee
Choukair, Daniela, Hauck, Fabian, Bettendorf, Markus, Krude, Heiko, Klein, Christoph, Bäumer, Tobias, Berner, Reinhard, Lee-Kirsch, Min Ae, Grasemann, Corinna, Burgard, Peter, Hoffmann, Georg F
Published in Orphanet journal of rare diseases (12.11.2021)
Published in Orphanet journal of rare diseases (12.11.2021)
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Transition for adolescents with a rare disease: results of a nationwide German project
Grasemann, Corinna, Höppner, Jakob, Burgard, Peter, Schündeln, Michael M, Matar, Nora, Müller, Gabriele, Krude, Heiko, Berner, Reinhard, Lee-Kirsch, Min Ae, Hauck, Fabian, Wainwright, Kerstin, Baumgarten, Sylvana, Atinga, Janet, Bauer, Jens J, Manka, Eva, Körholz, Julia, Kiewert, Cordula, Heinen, André, Kretschmer, Tanita, Kurth, Tobias, Mittnacht, Janna, Schramm, Christoph, Klein, Christoph, Graessner, Holm, Hiort, Olaf, Muntau, Ania C, Grüters, Annette, Hoffmann, Georg F, Choukair, Daniela
Published in Orphanet journal of rare diseases (25.04.2023)
Published in Orphanet journal of rare diseases (25.04.2023)
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Impact of age at onset and newborn screening on outcome in organic acidurias
Heringer, Jana, Valayannopoulos, Vassili, Lund, Allan M., Wijburg, Frits A., Freisinger, Peter, Barić, Ivo, Baumgartner, Matthias R., Burgard, Peter, Burlina, Alberto B., Chapman, Kimberly A., i Saladelafont, Elisenda Cortès, Karall, Daniela, Mühlhausen, Chris, Riches, Victoria, Schiff, Manuel, Sykut-Cegielska, Jolanta, Walter, John H., Zeman, Jiri, Chabrol, Brigitte, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.05.2016)
Published in Journal of inherited metabolic disease (01.05.2016)
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Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders
Posset, Roland, Garcia-Cazorla, Angeles, Valayannopoulos, Vassili, Teles, Elisa Leão, Dionisi-Vici, Carlo, Brassier, Anaïs, Burlina, Alberto B., Burgard, Peter, Cortès-Saladelafont, Elisenda, Dobbelaere, Dries, Couce, Maria L., Sykut-Cegielska, Jolanta, Häberle, Johannes, Lund, Allan M., Chakrapani, Anupam, Schiff, Manuel, Walter, John H., Zeman, Jiri, Vara, Roshni, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.09.2016)
Published in Journal of inherited metabolic disease (01.09.2016)
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Long-term outcome in methylmalonic acidurias is influenced by the underlying defect (mut0, mut- , cblA, cblB)
HÖRSTER, Friederike, BAUMGARTNER, Matthias R, VIARDOT, Caroline, SUORMALA, Terttu, BURGARD, Peter, FOWLER, Brian, HOFFMANN, Georg F, GARBADE, Sven F, KOLKER, Stefan, BAUMGARTNER, E. Regula
Published in Pediatric research (01.08.2007)
Published in Pediatric research (01.08.2007)
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High blood pressure, a red flag for the neonatal manifestation of urea cycle disorders
Teufel, Ulrike, Burgard, Peter, Meyburg, Jochen, Lindner, Martin, Poeschl, Johannes, Ruef, Peter, Hoffmann, Georg F, Kölker, Stefan
Published in Orphanet journal of rare diseases (08.04.2019)
Published in Orphanet journal of rare diseases (08.04.2019)
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Resource utilization and costs of transitioning from pediatric to adult care for patients with chronic autoinflammatory and autoimmune disorders
Choukair, Daniela, Patry, Christian, Lehmann, Ronny, Treiber, Dorothea, Hoffmann, Georg F, Grasemann, Corinna, Bruck, Normi, Berner, Reinhard, Burgard, Peter, Lorenz, Hanns-Martin, Tönshoff, Burkhard
Published in Pediatric Rheumatology (23.02.2024)
Published in Pediatric Rheumatology (23.02.2024)
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Current concepts in organic acidurias: understanding intra- and extracerebral disease manifestation
Kölker, Stefan, Burgard, Peter, Sauer, Sven W., Okun, Jürgen G.
Published in Journal of inherited metabolic disease (01.07.2013)
Published in Journal of inherited metabolic disease (01.07.2013)
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Conference Proceeding
ASL Metabolically Regulates Tyrosine Hydroxylase in the Nucleus Locus Coeruleus
Lerner, Shaul, Anderzhanova, Elmira, Verbitsky, Sima, Eilam, Raya, Kuperman, Yael, Tsoory, Michael, Kuznetsov, Yuri, Brandis, Alexander, Mehlman, Tevie, Mazkereth, Ram, Alber, Fabienne Dietrich, Babikian, Talin, Bender, Heidi, Boys, Christopher, Breiger, David, Buerger, Corinna, Burgard, Peter, Nguyen-Driver, Mina, Goodlett, Benjamin, Kerr, Elizabeth, Krueger, Casey, Mamak, Eva, Sanz, Jacqueline H., Schwartz, David, Caudle, Susan, Stefanos, Arianna, Tangen, Rachel, Walter, Magdalena, Waisbren, Susan, Wilkening, Greta, McCarter, Robert, Segal, Menahem, Nagamani, Sandesh C.S., Chen, Alon, Erez, Ayelet
Published in Cell reports (Cambridge) (19.11.2019)
Published in Cell reports (Cambridge) (19.11.2019)
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A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document
Cornel, Martina C, Rigter, Tessel, Weinreich, Stephanie S, Burgard, Peter, Hoffmann, Georg F, Lindner, Martin, Gerard Loeber, J, Rupp, Kathrin, Taruscio, Domenica, Vittozzi, Luciano
Published in European journal of human genetics : EJHG (01.01.2014)
Published in European journal of human genetics : EJHG (01.01.2014)
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Determinants of Plasma Docosahexaenoic Acid Levels and Their Relationship to Neurological and Cognitive Functions in PKU Patients: A Double Blind Randomized Supplementation Study
Demmelmair, Hans, MacDonald, Anita, Kotzaeridou, Urania, Burgard, Peter, Gonzalez-Lamuno, Domingo, Verduci, Elvira, Ersoy, Melike, Gokcay, Gulden, Alyanak, Behiye, Reischl, Eva, Müller-Felber, Wolfgang, Faber, Fabienne Lara, Handel, Uschi, Paci, Sabrina, Koletzko, Berthold
Published in Nutrients (07.12.2018)
Published in Nutrients (07.12.2018)
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Metabolic decompensation in methylmalonic aciduria: which biochemical parameters are discriminative?
Zwickler, Tamaris, Haege, Gisela, Riderer, Alina, Hörster, Friederike, Hoffmann, Georg F., Burgard, Peter, Kölker, Stefan
Published in Journal of inherited metabolic disease (01.09.2012)
Published in Journal of inherited metabolic disease (01.09.2012)
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Journal Article
Differences of Phenylalanine Concentrations in Dried Blood Spots and in Plasma: Erythrocytes as a Neglected Component for This Observation
Haas, Dorothea, Hauke, Jana, Schwarz, Kathrin V., Consalvi, Lucia, Trefz, Friedrich K., Blau, Nenad, Hoffmann, Georg F., Burgard, Peter, Garbade, Sven F., Okun, Jürgen G.
Published in Metabolites (03.10.2021)
Published in Metabolites (03.10.2021)
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