Lenz, Dominic PD Dr. med.Universität HeidelbergHeidelberg
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- Schröter, Julian (3)
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Recent publications in heiBIB 
(In total there are 31 publications catalogued)
- 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
