Mevalonate kinase deficiencies: from mevalonic aciduria to hyperimmunoglobulinemia D syndrome

by Haas, Dorothea, Hoffmann, Georg F
Published 2006

Ten Years after the International Committee of Medical Journal Editors’ Clinical Trial Registration Initiative, One Quarter of Phase 3 Pediatric Epilepsy Clinical Trials Still Rema...

by Lampert, Anette, Hoffmann, Georg F., Ries, Markus
Published 2016

Thirty Years of Orphan Drug Legislation and the Development of Drugs to Treat Rare Seizure Conditions: A Cross Sectional Analysis

by Döring, Jan Henje, Lampert, Anette, Hoffmann, Georg F., Ries, Markus
Published 2016

Novel treatments for rare rheumatologic disorders: analysis of the impact of 30 years of the US orphan drug act

by Lutz, Thomas, Lampert, Anette, Hoffmann, Georg F., Ries, Markus
Published 2016

Pressure for drug development in lysosomal storage disorders – a quantitative analysis thirty years beyond the US orphan drug act

by Mechler, Konstantin, Mountford, William K, Hoffmann, Georg F, Ries, Markus
Published 2015

Newborn screening by tandem mass spectrometry for glutaric aciduria type 1: a cost-effectiveness analysis

by Pfeil, Johannes, Listl, Stefan, Hoffmann, Georg F, Kölker, Stefan, Lindner, Martin, Burgard, Peter
Published 2013

An Assessment of Publication Status of Pediatric Liver Transplantation Studies

by Breil, Thomas, Wenning, Daniel, Teufel, Ulrike, Hoffmann, Georg F., Ries, Markus
Published 2016

Novel orphan medicines and abandoned pathways - the US Orphan Drug Act of 1983 and the impact on rare rheumatologic diseases and lysosomal storage disorders

by Ries, Markus, Lutz, Thomas, Lampert, Anette, Mountford, William, Mechler, Konstantin, Hoffmann, Georg F
Published 2015

Clinical Research in Vulnerable Populations: Variability and Focus of Institutional Review Boards’ Responses

by Kästner, Bärbel, Behre, Simone, Lutz, Nadine, Bürger, Friederike, Luntz, Steffen, Hinderhofer, Katrin, Bendszus, Martin, Hoffmann, Georg F., Ries, Markus
Published 2015

CRISPR RNA-guided FokI nucleases repair a PAH variant in a phenylketonuria model

by Pan, Yi, Shen, Nan, Jung-Klawitter, Sabine, Betzen, Christian, Hoffmann, Georg F., Hoheisel, Jörg D., Blau, Nenad
Published 2016

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

by Boy, Nikolas, Heringer, Jana, Haege, Gisela, Glahn, Esther M., Hoffmann, Georg F., Garbade, Sven F., Kölker, Stefan, Burgard, Peter
Published 2015

Efficacy and outcome of expanded newborn screening for metabolic diseases - Report of 10 years from South-West Germany *

by 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 2011

A framework to start the debate on neonatal screening policies in the EU: an Expert Opinion Document

by 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 2014

Clinical course of 63 patients with neonatal onset urea cycle disorders in the years 2001–2013

by Unsinn, Caroline, Das, Anibh, Valayannopoulos, Vassili, Thimm, Eva, Beblo, Skadi, Burlina, Alberto, Konstantopoulou, Vassiliki, Mayorandan, Sebene, de Lonlay, Pascale, Rennecke, Jörg, Derbinski, Jens, Hoffmann, Georg F., Häberle, Johannes
Published 2016

Diagnosis and management of glutaric aciduria type I – revised recommendations

by 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 2011

A novel autosomal recessive TERT T1129P mutation in a dyskeratosis congenita family leads to cellular senescence and loss of CD34+ hematopoietic stem cells not reversible by mTOR-i...

by Stockklausner, Clemens, Raffel, Simon, Klermund, Julia, Bandapalli, Obul Reddy, Beier, Fabian, Brümmendorf, Tim H., Bürger, Friederike, Sauer, Sven W., Hoffmann, Georg F., Lorenz, Holger, Tagliaferri, Laura, Nowak, Daniel, Hofmann, Wolf-Karsten, Buergermeister, Rebecca, Kerber, Carolin, Rausch, Tobias, Korbel, Jan O., Luke, Brian, Trumpp, Andreas, Kulozik, Andreas E.
Published 2015

Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3

by Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Published 2016

A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

by Rauschenberger, Katharina, Schöler, Katja, Sass, Jörn Oliver, Sauer, Sven, Djuric, Zdenka, Rumig, Cordula, Wolf, Nicole I, Okun, Jürgen G, Kölker, Stefan, Schwarz, Heinz, Fischer, Christine, Grziwa, Beate, Runz, Heiko, Nümann, Astrid, Shafqat, Naeem, Kavanagh, Kathryn L, Hämmerling, Günter, Wanders, Ronald J A, Shield, Julian P H, Wendel, Udo, Stern, David, Nawroth, Peter, Hoffmann, Georg F, Bartram, Claus R, Arnold, Bernd, Bierhaus, Angelika, Oppermann, Udo, Steinbeisser, Herbert, Zschocke, Johannes
Published 2010

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy

by Cullup, Thomas, Kho, Ay L., Dionisi-Vici, Carlo, Brandmeier, Birgit, Smith, Frances, Urry, Zoe, Simpson, Michael A., Yau, Shu, Bertini, Enrico, McClelland, Verity, Al-Owain, Mohammed, Koelker, Stefan, Koerner, Christian, Hoffmann, Georg F., Wijburg, Frits A., Hoedt, Amber E. ten, Rogers, Curtis, Manchester, David, Miyata, Rie, Hayashi, Masaharu, Said, Elizabeth, Soler, Doriette, Kroisel, Peter M., Windpassinger, Christian, Filloux, Francis M., Al-Kaabi, Salwa, Hertecant, Jozef, Del Campo, Miguel, Buk, Stefan, Bodi, Istvan, Goebel, Hans-Hilmar, Sewry, Caroline A., Abbs, Stephen, Mohammed, Shehla, Josifova, Dragana, Gautel, Mathias, Jungbluth, Heinz
Published 2012

Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement

by Haack, Tobias B, Jackson, Christopher B, Murayama, Kei, Kremer, Laura S, Schaller, André, Kotzaeridou, Urania, de Vries, Maaike C, Schottmann, Gudrun, Santra, Saikat, Büchner, Boriana, Wieland, Thomas, Graf, Elisabeth, Freisinger, Peter, Eggimann, Sandra, Ohtake, Akira, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Sauer, Sascha, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Hasselmann, Oswald, Cremer, Kirsten, Albrecht, Beate, Wieczorek, Dagmar, Engels, Hartmut, Hahn, Dagmar, Zink, Alexander M, Alston, Charlotte L, Taylor, Robert W, Rodenburg, Richard J, Trollmann, Regina, Sperl, Wolfgang, Strom, Tim M, Hoffmann, Georg F, Mayr, Johannes A, Meitinger, Thomas, Bolognini, Ramona, Schuelke, Markus, Nuoffer, Jean-Marc, Kölker, Stefan, Prokisch, Holger, Klopstock, Thomas
Published 2015