Staufner, Christian PD Dr. med.Universität HeidelbergHeidelberg
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Publications in heiBIB
- Lenz, Dominic: Etiology and outcome of adult and pediatric acute liver failure in Europe / Dominic Lenz, Marianne Hørby Jørgensen, Deirdre Kelly, Vincenzo Cardinale, Anja Geerts, Isabel Gonça… , July 2023. - 6 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 77(2023), 1, Seite 115-120
DOI: 10.1097/MPG.0000000000003777
- Vogel, Georg: Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants / Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Fe… , June 2023. - 16 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16
DOI: 10.1016/j.gim.2022.09.015
- Niederau, Claus: Management, vaccination status and COVID-19 morbidity of patients with Gaucher disease in Germany during the COVID-19 pandemic / Claus Niederau, Claudia Regenbogen, Hans-Martin Fruehauf, Martin Merkel, Athanasia Ziagaki, Eugen Me… , 10.01.2023. - 6 S.
In: Zeitschrift für Gastroenterologie, ISSN 1439-7803. 61(2023), 04 vom: Jan., Seite 375-380
DOI: 10.1055/a-1821-9009
- Schröter, Julian: aRgus: multilevel visualization of non-synonymous single nucleotide variants & advanced pathogenicity score modeling for genetic vulnerability assessment / Julian Schroeter, Tal Dattner, Jennifer Huellein, Alejandra Jayme, Vincent Heuveline, Georg F. Hoffm… , 2023. - 7 S.
In: Computational and structural biotechnology journal, ISSN 2001-0370. 21(2023), Seite 1077-1083
DOI: 10.1016/j.csbj.2023.01.027
- Kovacevic, Alexander: Evaluation of right ventricular function in patients with propionic acidemia : a cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 5 January 2023. - 13 S. : Illustrationen
In: Children, ISSN 2227-9067. 10(2023), 1, Artikel-ID 113, Seite 1-13
DOI: 10.3390/children10010113
- Yépez, Vicente: Clinical implementation of RNA sequencing for Mendelian disease diagnostics / Vicente A. Yepez, Mirjana Gusic, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L.… , 05 April 2022. - 16 S.
In: Genome medicine, ISSN 1756-994X. 14(2022), Artikel-ID 38, Seite 1-16
DOI: 10.1186/s13073-022-01019-9
- Kovacevic, Alexander: Detection of early cardiac disease manifestation in propionic acidemia - results of a monocentric cross-sectional study / Alexander Kovacevic, Sven F. Garbade, Friederike Hörster, Georg F. Hoffmann, Matthias Gorenflo, Derl… , 14 November 2022. - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 4, Seite 349-358
DOI: 10.1016/j.ymgme.2022.10.007
- Götz, Maren: Genotypic and phenotypic spectrum of cytosolic phosphoenolpyruvate carboxykinase deficiency / M. Goetz, J. Schröter, T. Dattner, H. Brennenstuhl, D. Lenza, T. Opladen, F. Hörster, J.G. Okun, G.F… , 19 July 2022. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 137(2022), 1, Seite 18-25
DOI: 10.1016/j.ymgme.2022.07.007
- Zellos, Aglaia: Proceedings of ESPGHAN monothematic conference 2020: "Acute liver failure in children" : diagnosis and initial management / Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, Piotr Czubkowski, Marianne Samyn, Nedim Hadzic, G… , 2022. - 12 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 74(2022), 3, Seite e45-e56
DOI: 10.1097/MPG.0000000000003341
- Zellos, Aglaia: Proceedings of the European Society for Pediatric Gastroenterology, Hepatology and Nutrition monothematic conference, 2020: "Acute liver failure in children" : treatment and directions for future research / Aglaia Zellos, Dominique Debray, Giuseppe Indolfi, Piotr Czubkowski, Marianne Samyn, Nedim Hadzic, G… , 2022. - 10 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 74(2022), 3, Seite 338-347
DOI: 10.1097/MPG.0000000000003345
- Lenz, Dominic: NBAS variants are associated with quantitative and ualitative NK and B Cell deficiency / Dominic Lenz, Jens Pahl, Fabian Hauck, Seham Alameer, Meena Balasubramanian, Ivo Baric, Nikolas Boy,… , 13 August 2021. - 12 S.
In: Journal of clinical immunology, ISSN 1573-2592. 41(2021), 8, Seite 1781-1793
DOI: 10.1007/s10875-021-01110-7
- Vavassori, Stefano: Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency / Stefano Vavassori, PhD, Janet Chou, MD, Laura Eva Faletti, PhD, Veronika Haunerdinger, PhD,Lennart O… , March 30, 2021. - 13 S.
In: The journal of allergy and clinical immunology, ISSN 1097-6825. 148(2021), 2, Seite 381-393
DOI: 10.1016/j.jaci.2021.03.045
- Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross sectional analysis / Sven F. Garbade PhD, Matthias Zielonka MD, Konstantin Mechler MD, Stefan Kölker MD, Georg F. Hoffman… , January 14, 2020. - 29 S.
In: medRxiv. (2020), Artikel-ID 10.1101/2020.01.05.20016568, Seite 1-29
DOI: 10.1101/2020.01.05.20016568
- Staufner, Christian: Identifikation und Phänotypisierung angeborener Stoffwechselkrankheiten in der Ära der Exomsequenzierung / vorgelegt von Dr. med. Christian Maximilian Staufner. -
Heidelberg, 2020. - 131 Seiten : Illustrationen, Diagramme
- Zech, Michael: Monogenic variants in dystonia : an exome-wide sequencing study / Michael Zech, Robert Jech, Sylvia Boesch, Matej Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao,… , 21 October 2020. - 11 S.
In: The lancet, ISSN 1474-4465. 19(2020), 11, Seite 908-918
DOI: 10.1016/S1474-4422(20)30312-4
- Fischer, Hendrik S.: Early exchange transfusion to treat neonates with gestational alloimmune liver disease : an 11-year cohort study / Hendrik S. Fischer, Christian Staufner, Hannes Sallmon, Stephan Henning, Christoph Bührer, [2020]. - 6 S.
In: Journal of pediatric gastroenterology and nutrition, ISSN 1536-4801. 70(2020), 4, Seite 444-449
DOI: 10.1097/MPG.0000000000002593
- Garbade, Sven: FDA orphan drug designations for lysosomal storage disorders : a cross-sectional analysis / Sven F. Garbade, Matthias Zielonka, Konstantin Mechler, Stefan Kölker, Georg F. Hoffmann, Christian … , April 8, 2020
In: PLOS ONE, ISSN 1932-6203. 15(2020,4) Artikel-Nummer e0230898, 12 Seiten
DOI: 10.1371/journal.pone.0230898
- Kovacevic, Alexander: Cardiac phenotype in propionic acidemia : results of an observational monocentric study / A. Kovacevic, S.F. Garbade, G.F. Hoffmann, M. Gorenflo, S. Koelker, C. Staufner, 10 February 2020. - 8 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 130(2020), 1, Seite 41-48
DOI: 10.1016/j.ymgme.2020.02.004
- Staufner, Christian: Defining clinical subgroups and genotype-phenotype correlations in NBAS-associated disease across 110 patients / Christian Staufner, MD, Bianca Peters, Matias Wagner, MD, Seham Alameer, MD, Ivo Barić, MD, PhD, Pie… , 2020. - 12 S.
In: Genetics in medicine, ISSN 1530-0366. 22(2020), 3, Seite 610-621
DOI: 10.1038/s41436-019-0698-4
- Kleine-Eggebrecht, Nicola Alexandra: Mutation in ITCH gene can cause syndromic multisystem autoimmune disease with acute liver failure / Nicola Kleine-Eggebrecht, MD, Christian Staufner, MD, Simone Kathemann, MD, Magdeldin Elgizouli, MD,… , January 31, 2019. - 8 S.
In: Pediatrics, ISSN 1098-4275. 143(2019,2) Artikelnummer e20181554, 8 Seiten
DOI: 10.1542/peds.2018-1554
- Lenz, Dominic: Generation of an induced pluripotent stem cell (iPSC) line, DHMCi005-A, from a patient with CALFAN syndrome due to mutations in SCYL1 / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 22 March 2019
In: Stem cell research, ISSN 1876-7753. 37(2019) Artikel-Nummer 101428, 5 Seiten
DOI: 10.1016/j.scr.2019.101428
- Dimitrov, Bianca: Cutis laxa, exocrine pancreatic insufficiency and altered cellular metabolomics as additional symptoms in a new patient with ATP6AP1-CDG / Bianca Dimitrov, Nastassja Himmelreich, Agnes L. Hipgrave Ederveen, Christian Lüchtenborg, Jürgen G.… , 2018. - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 123(2018), 3, Seite 364-374
DOI: 10.1016/j.ymgme.2018.01.008
- Lenz, Dominic: SCYL1 variants cause a syndrome with low γ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) / Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Bea… , 08 February 2018. - 11 S.
In: Genetics in medicine, ISSN 1530-0366. 20(2018), 10, Seite 1255-1265
DOI: 10.1038/gim.2017.260
- Lenz, Dominic: Response to Spagnoli et al. "On CALFAN syndrome : Report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure response" / Dominic Lenz, Christian Staufner, 10 December 2018. - 2 S.
In: Genetics in medicine, ISSN 1530-0366. 21(2019), 7, Seite 1665-1666
DOI: 10.1038/s41436-018-0388-7
- Ruiz, Domingo: AMPA receptor antagonist CFM-2 decreases survivin expression in cancer cells / Domingo Sanchez Ruiz, Hella Luksch, Marco Sifringer, Achim Temme, Christian Staufner, Wojciech Rzesk… , 20 February 2018. - 6 S.
In: Anti-cancer agents in medicinal chemistry, ISSN 1875-5992. 18(2018), 4, Seite 591-596
DOI: 10.2174/1871520618666180228123406
- El-Hattab, Ayman W.: MPV17-related mitochondrial DNA maintenance defect : new cases and review of clinical, biochemical, and molecular aspects / Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel… , 2018. - 10 S.
In: Human mutation, ISSN 1098-1004. 39(2018), 4, Seite 461-470
DOI: 10.1002/humu.23387
- Workshop for Pediatric Research <52., 2016, Frankfurt am Main>: Abstracts of the 52nd Workshop for Pediatric Research : Frankfurt, Germany. 27-28 October 2016 / Rhea van den Bruck, Patrick P. Weil, Thomas Ziegenhals, Philipp Schreiner, Stefan Juranek, Daniel Gö… , 10 May 2017. - 9 S.
In: Molecular and Cellular Pediatrics, ISSN 2194-7791. 4(2017), Suppl. 1, Artikel-ID 5, Seite 1-9
DOI: 10.1186/s40348-017-0071-0
- Evers, Christina: Impact of clinical exomes in neurodevelopmental and neurometabolic disorders / Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lili… . - 11 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 4, S. 297-307
DOI: 10.1016/j.ymgme.2017.06.014
- Maas, Roeltje R: Progressive deafness-dystonia due to SERAC1 mutations : a study of 67 cases / Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Ucar, Bader Alhaddad, Moeenaldeen AlSayed,… . - 12 S.
In: Annals of neurology, ISSN 1531-8249. 82(2017), 6, S. 1004-1015
DOI: 10.1002/ana.25110
- Grünert, Sarah: Clinical presentation and outcome in a series of 32 patients with 2-methylacetoacetyl-coenzyme A thiolase (MAT) deficiency / Sarah Catharina Grünert, Robert Niklas Schmitt, Sonja Marina Schlatter, Corinne Gemperle-Britschgi, … , 2017. - 9 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 1-2, Seite 67-75
DOI: 10.1016/j.ymgme.2017.06.012
- Grünert, Sarah: 3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency : clinical presentation and outcome in a series of 37 patients / Sarah Catharina Grünert, Sonja Marina Schlatter, Robert Niklas Schmitt, Corinne Gemperle-Britschgi, … . - 10 S.
In: Molecular genetics and metabolism, ISSN 1096-7206. 121(2017), 3, S. 206-215
DOI: 10.1016/j.ymgme.2017.05.014
- Staufner, Christian: MRI and 1H-MRS in adenosine kinase deficiency / C. Staufner, H.J. Blom, C. Dionisi-Vici, P. Freisinger, N. Makhseed, D. Ballhausen, S. Kölker, G.F. … . - 7 S.
In: Neuroradiology, ISSN 1432-1920. 58(2016), 7, S. 697-703
DOI: 10.1007/s00234-016-1676-z
- Barić, Ivo: Consensus recommendations for the diagnosis, treatment and follow-up of inherited methylation disorders / Ivo Barić, Christian Staufner, Persephone Augoustides-Savvopoulou, Yin-Hsiu Chien, Dries Dobbelaere,… , 2017. - 16 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 40(2017), 1, Seite 5-20
DOI: 10.1007/s10545-016-9972-7
- Kopajtich, Robert: Biallelic IARS mutations cause growth retardation with prenatal onset, intellectual disability, muscular hypotonia, and infantile hepatopathy / Robert Kopajtich, Kei Murayama, Andreas R. Janecke, Tobias B. Haack, Maximilian Breuer, A.S. Knisely… . - 9 S.
In: The American journal of human genetics, ISSN 1537-6605. 99(2016), 2, S. 414-422
DOI: 10.1016/j.ajhg.2016.05.027
- Staufner, Christian: Genetic cause and prevalence of hydroxyprolinemia / Christian Staufner, Tobias B. Haack, Patrik Feyh, Gwendolyn Gramer, Deepthi Ediga Raga, Caterina Ter… , 2 May 2016. - 8 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 5, Seite 625-632
DOI: 10.1007/s10545-016-9940-2
- Staufner, Christian: Adenosine kinase deficiency : expanding the clinical spectrum and evaluating therapeutic options / Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire D… , 2016. - 11 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 2, Seite 273-283
DOI: 10.1007/s10545-015-9904-y
- Staufner, Christian: Recurrent acute liver failure due to NBAS deficiency : phenotypic spectrum, disease mechanisms, and therapeutic concepts / Christian Staufner, Tobias B. Haack, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 2016. - 14 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 39(2016), 1, Seite 3-16
DOI: 10.1007/s10545-015-9896-7
- Kölker, Stefan: Erratum to: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1 : the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 2 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1155-1156
DOI: 10.1007/s10545-015-9867-z
- Kölker, Stefan: The phenotypic spectrum of organic acidurias and urea cycle disorders : part 1: the initial presentation / Stefan Kölker, Angeles Garcia Cazorla, Vassili Valayannopoulos, Allan M. Lund, Alberto B. Burlina, J… , November 2015. - 17 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 38(2015), 6, Seite 1041-1057
DOI: 10.1007/s10545-015-9839-3
- Haack, Tobias: Biallelic mutations in NBAS cause recurrent acute liver failure with onset in infancy / Tobias B. Haack, Christian Staufner, Marlies G. Köpke, Beate K. Straub, Stefan Kölker, Christian Thi… , 11 June 2015. - 7 S.
In: The American journal of human genetics, ISSN 1537-6605. 97(2015), 1, Seite 163-169
DOI: 10.1016/j.ajhg.2015.05.009
- Rüegger, Corinne M.: Cross-sectional observational study of 208 patients with non-classical urea cycle disorders / Corinne M. Rüegger ; Martin Lindner ... Stefan Kölker ... Christian Staufner ... Peter Burgard .... - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 37(2014), 1, S. 21-30
DOI: 10.1007/s10545-013-9624-0
- Staufner, Christian: Algorithm for early diagnosis in nontuberculous mycobacterial lymphadenitis / C. Staufner, O. Sommerburg, S. Holland‐Cunz, 26 April 2012. - 4 S.
In: Acta paediatrica, ISSN 1651-2227. 101(2012), 8, Seite e382-e385
DOI: 10.1111/j.1651-2227.2012.02702.x
- Danhauser, Katharina: DHTKD1 mutations cause 2-Aminoadipic and 2-Oxoadipic aciduria / Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth G… . - 6 S.
In: The American journal of human genetics, ISSN 1537-6605. 91(2012), 6, S. 1082-1087
DOI: 10.1016/j.ajhg.2012.10.006
- Luksch, Hella: Silencing of selected glutamate receptor subunits modulates cancer growth / Hella Luksch, Ortrud Uckermann, Andrzej Stepulak, Sandy Hendruschk, Jenny Marzahn, Susanne Bastian, … , 2011. - 12 S.
In: Anticancer research, ISSN 1791-7530. 31(2011), 10, Seite 3181-3192