Lenz, Dominic PD Dr. med.Universität HeidelbergHeidelberg
Publikationsliste einschränken
Publikationsjahre
Publikationstypen
Sprache
Co-Autoren (Uni Heidelberg)
- Schröter, Julian (3)
- Fichtner, Alexander (3)
- Brennenstuhl, Heiko (3)
- Harting, Inga (3)
- Bianzano, Alyssa (3)
- Johann, Pascal-David (2)
- Burgard, Peter (2)
- Hörster, Friederike (2)
- Dikow, Nicola (2)
- Mengler, Katharina (2)
- Opladen, Thomas (2)
- Thiel, Christian (2)
- Hempel, Maja (2)
- Straub, Beate Katharina (2)
- Hammann, Nicole Irene (2)
- Jung-Klawitter, Sabine (2)
- Ries, Markus (2)
- Boy, Nikolas (2)
- Heringer-Seifert, Jana (1)
- Heuveline, Vincent (1)
- Moog, Ute (1)
- Posset, Roland (1)
- Cerwenka, Adelheid (1)
- Greil, Johann (1)
- Hübschmann, Daniel (1)
- Gleich, Florian (1)
- Dimitrov, Bianca (1)
- Götz, Maren (1)
- Pahl, Jens (1)
- Reischl-Hajiabadi, Anna Theresa (1)
- Leibner, Alexander (1)
- Diwan, Gaurav (1)
- Beisse, Flemming (1)
- (weitere Einträge vorhanden...)
Co-Autoren (extern)
- Makowski, Christine (2)
- Kelly, Deirdre (2)
- Das, Anibh M. (2)
- Baric, Ivo (2)
- Lainka, Elke (2)
- Schlieben, Lea D. (2)
- Lindner, Martin (1)
- Scaglia, Fernando (1)
- Hüllein, Jennifer (1)
- Amenta, Simona (1)
- Krämer, Johannes (1)
- Suzuki, Shigeru (1)
- Krämer, Johannes (1)
- Lindner, Martin (1)
- Göhring, Gudrun (1)
- Mandel, Hanna (1)
- Lohse, Ansgar W. (1)
- Marquardt, Iris (1)
- Hagedorn, Maike (1)
- Göhring, Gudrun (1)
- Ebersold, Juliane (1)
- Cousin, Margot (1)
- Yang, Ye (1)
- Williams, Monique (1)
- Staufner, Christian (1)
- Schwab, Tanya L. (1)
- Schulze, Ryan J. (1)
- Rymen, Daisy (1)
- Mounajjed, Taofic (1)
- McLin, Valérie (1)
- Baumgartner, Matthias R. (1)
- Apitz, Christian (1)
- Houlden, Henry (1)
- (weitere Einträge vorhanden...)
Publikationen in heiBIB 
- Hammann, Nicole Irene: MRI in LARS1 deficiency : spectrum, patterns, and correlation with acute neurological deterioration / Nicole Hammann, Dominic Lenz, Alyssa Bianzano, Ralf A. Husain, Eva Forman, Jonathan A. Bernstein, Ta… , September 2024. - 19 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 5, Seite 1028-1046
DOI: 10.1002/jimd.12764
- Kirchberg, Ina: Distinct neonatal hyperammonemia and liver synthesis dysfunction : case report of a severe MEGDHEL syndrome / Ina Kirchberg, Elke Lainka, Andrea Gangfuß, Alma Kuechler, Fabian Baertling, Lea D. Schlieben, Domin… , 2024. - 5 S. : Illustrationen
In: Frontiers in Pediatrics, ISSN 2296-2360. 12(2024), Artikel-ID 1278047, Seite 1278047-1-1278047-5
DOI: 10.3389/fped.2024.1278047
- Peters, Bianca: Disorders of vesicular trafficking presenting with recurrent acute liver failure : NBAS, RINT1, and SCYL1 deficiency / Bianca Peters, Tal Dattner, Lea D. Schlieben, Tian Sun, Christian Staufner, Dominic Lenz, 2024. - 13 S. : Illustrationen, Diagramme
In: Journal of inherited metabolic disease, ISSN 1573-2665. 48(2024), 1, Artikel-ID e12707, Seite 1-13
DOI: 10.1002/jimd.12707
- Hammann, Nicole Irene: Impact of genetic and non-genetic factors on phenotypic diversity in NBAS-associated disease / Nicole Hammann, Dominic Lenz, Ivo Baric, Ellen Crushell, Carlo Dionisi Vici, Felix Distelmaier, Fran… , March 2024. - 10 S. : Illustrationen
In: Molecular genetics and metabolism, ISSN 1096-7206. 141(2024), 3 vom: März, Artikel-ID 108118, Seite 1-10
DOI: 10.1016/j.ymgme.2023.108118
- Lenz, Dominic: Genetic landscape of pediatric acute liver failure of indeterminate origin / Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, … , May 2024. - 13 S. : Illustrationen
In: Hepatology, ISSN 1527-3350. 79(2024), 5 vom: Mai, Seite 1075-1087
DOI: 10.1097/HEP.0000000000000684
- Brunet, Theresa: De novo variants in RNF213 are associated with a clinical spectrum ranging from Leigh syndrome to early-onset stroke / Theresa Brunet, Benedikt Zott, Victoria Lieftüchter, Dominic Lenz, Axel Schmidt, Philipp Peters, Rob… , February 2024. - 12 S. : Illustrationen
In: Genetics in medicine, ISSN 1530-0366. 26(2024), 2 vom: Feb., Artikel-ID 101013, Seite 1-12
DOI: 10.1016/j.gim.2023.101013
- Reischl-Hajiabadi, Anna Theresa: Outcomes after newborn screening for propionic and methylmalonic acidemia and homocystinurias / Anna T. Reischl-Hajiabadi, Elena Schnabel, Florian Gleich, Katharina Mengler, Martin Lindner, Peter … , July 2024. - 16 S. : Illustrationen
In: Journal of inherited metabolic disease, ISSN 1573-2665. 47(2024), 4 vom: Juli, Seite 674-689
DOI: 10.1002/jimd.12731
- 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
- 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
- Mann, Jake P.: Common mechanisms in pediatric acute liver failure / Jake P. Mann, Dominic Lenz, Zania Stamataki, and Deirdre Kelly, 15 February 2023. - 16 S.
In: Trends in molecular medicine, ISSN 1471-499X. 29(2023), 3, Seite 228-240
DOI: 10.1016/j.molmed.2022.11.006
- Lenz, Dominic: Leberversagen im Kindesalter : Ursachen und Pathophysiologie / vorgelegt von Dr. med. Dominic Andreas Lenz. -
Heidelberg, 2022. - 1 Band (verschiedene Seitenzählungen) : Illustrationen, Diagramme
- 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
- Lurz, Eberhard: The recent outbreak of acute severe hepatitis in children of unknown origin - what is known so far / Eberhard Lurz, Dominic Lenz, Philip Bufler, Alexander Fichtner, Stephan Henning, Martin Jankofsky, S… , [October 2022]. - 2 S.
In: Journal of hepatology, ISSN 1600-0641. 77(2022), 4, Seite 1214-1215
DOI: 10.1016/j.jhep.2022.05.039
- 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
- Kleine, Ruben H. de: Severe acute hepatitis and acute liver failure of unknown origin in children : a questionnaire-based study within 34 paediatric liver centres in 22 European countries and Israel, April 2022 / Ruben H. de Kleine, Willem S. Lexmond, Gustav Buescher, Ekkehard Sturm, Deidre Kelly, Ansgar W. Lohs… , May 2022. - 7 S.
In: Eurosurveillance, ISSN 1560-7917. 27(2022), 19, Artikel-ID pii=2200369, Seite 1-7
DOI: 10.2807/1560-7917.ES.2022.27.19.2200369
- 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
- Johann, Pascal-David: “The drug development pipeline for glioblastoma : a cross sectional assessment of the FDA Orphan Drug Product designation database” / Pascal Johann MD, Dominic Lenz MD, Markus Ries MD PhD, January 04, 2021. - 21 S.
In: medRxiv. (2021), Artikel-ID 2021.01.01.21249120, Seite 1-21
DOI: 10.1101/2021.01.01.21249120
- Richard, Elodie M.: Bi-allelic variants in SPATA5L1 lead to intellectual disability, spastic-dystonic cerebral palsy, epilepsy, and hearing loss / Elodie M. Richard, Somayeh Bakhtiari, Ashley P.L. Marsh, Rauan Kaiyrzhanov, Matias Wagner, Sheetal S… , 7 October 2021. - 11 S.
In: The American journal of human genetics, ISSN 1537-6605. 108(2021), 10, Seite 2006-2016
DOI: 10.1016/j.ajhg.2021.08.003
- Märtner, E.M. Charlotte: Impact of interventional and non-interventional variables on anthropometric long-term development in glutaric aciduria type 1 : a national prospective multi-centre study / E.M. Charlotte Märtner, Esther M. Maier, Katharina Mengler, Eva Thimm, Katharina A. Schiergens, Thor… , 2021. - 10 S.
In: Journal of inherited metabolic disease, ISSN 1573-2665. 44(2021), 3, Seite 629-638
DOI: 10.1002/jimd.12335
- Johann, Pascal-David: The drug development pipeline for glioblastoma : a cross sectional assessment of the FDA Orphan Drug Product designation database / Pascal Johann, Dominic Lenz, Markus Ries, July 7, 2021. - 14 S.
In: PLOS ONE, ISSN 1932-6203. 16(2021), 7, Artikel-ID e0252924, Seite 1-14
DOI: 10.1371/journal.pone.0252924
- 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
- Cousin, Margot: RINT1 bi-allelic variations cause infantile-onset recurrent acute liver failure and skeletal abnormalities / Margot A. Cousin, Erin Conboy, Jian-She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshi… , 2019. - 14 S.
In: The American journal of human genetics, ISSN 1537-6605. 105(2019), 1, Seite 108-121
DOI: 10.1016/j.ajhg.2019.05.011
- 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
- Lenz, Dominic: Generation of an iPSC line from a patient with infantile liver failure syndrome 2 due to mutations in NBAS : DHMCi004-A / Dominic Lenz, Christian Staufner, Selina Wächter, Maike Hagedorn, Juliane Ebersold, Gudrun Göhring, … , 11 February 2019. - 4 S.
In: Stem cell research, ISSN 1876-7753. 35(2019) Artikel-Nummer 101398, 4 Seiten
DOI: 10.1016/j.scr.2019.101398
- 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
- 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
- Lenz, Dominic: Primary cutaneous cryptococcosis in an eight-year-old immunocompetent child : how to treat? / Lenz, D., Held, J., Goerke, S., Wagner, D., Tintelnot, K., Henneke, P., Hufnagel, M.. - 4 S.
In: Klinische Pädiatrie, ISSN 1439-3824. 227(2015), 1, S. 41-44
DOI: 10.1055/s-0034-1387775
- Lenz, Dominic: Bewertung der Leuchtdioden-Fluoreszenz-Mikroskopie im Vergleich zu konventioneller Fluoreszenz-Mikroskopie, Lichtmikroskopie und Polymerase-Kettenreaktion zur Diagnose von Plasmodium falciparum-Infektionen in Gabun / vorgelegt von Dominic Andreas Lenz, 2014. - 95 S. : Ill., graph. Darst., Kt.
- Lenz, Dominic: Bewertung der Leuchtdioden-Fluoreszenz-Mikroskopie im Vergleich zu konventioneller Fluoreszenz-Mikroskopie, Lichtmikroskopie und Polymerase-Kettenreaktion zur Diagnose von Plasmodium falciparum-Infektionen in Gabun / vorgelegt von Dominic Andreas Lenz, 2014. - Online-Ressource (95 S.) : Ill., graph. Darst., Kt.
IDs
Links
Lenz, Dominic in ...
Export Publikationsliste
heiBIB
Bei fehlerhaften oder unvollständigen Angaben wenden Sie sich bitte an biblio@ub.uni-heidelberg.de.
Informationen zu heiBIB (inkl. Einbettung der Publikationslisten in eigene WWW-Seiten).
