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| Verfasst von: | Vogel, Georg [VerfasserIn]  |
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| | Mozer-Glassberg, Yael [VerfasserIn] |
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| | Landau, Yuval E. [VerfasserIn] |
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| | Schlieben, Lea D. [VerfasserIn] |
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| | Prokisch, Holger [VerfasserIn] |
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| | Feichtinger, René G. [VerfasserIn] |
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| | Mayr, Johannes A. [VerfasserIn] |
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| | Brennenstuhl, Heiko [VerfasserIn] |
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| | Schröter, Julian [VerfasserIn] |
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| | Pechlaner, Agnes [VerfasserIn] |
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| | Alkuraya, Fowzan S. [VerfasserIn] |
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| | Baker, Joshua J. [VerfasserIn] |
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| | Barcia, Giulia [VerfasserIn] |
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| | Baric, Ivo [VerfasserIn] |
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| | Braverman, Nancy [VerfasserIn] |
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| | Burnyte, Birute [VerfasserIn] |
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| | Christodoulou, John [VerfasserIn] |
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| | Ciara, Elzbieta [VerfasserIn] |
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| | Coman, David [VerfasserIn] |
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| | Das, Anibh M. [VerfasserIn] |
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| | Darin, Niklas [VerfasserIn] |
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| | Della Marina, Adela [VerfasserIn] |
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| | Distelmaier, Felix [VerfasserIn] |
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| | Eklund, Erik A. [VerfasserIn] |
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| | Ersoy, Melike [VerfasserIn] |
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| | Fang, Weiyan [VerfasserIn] |
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| | Gaignard, Pauline [VerfasserIn] |
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| | Ganetzky, Rebecca D. [VerfasserIn] |
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| | Gonzales, Emmanuel [VerfasserIn] |
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| | Howard, Caoimhe [VerfasserIn] |
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| | Hughes, Joanne [VerfasserIn] |
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| | Konstantopoulou, Vassiliki [VerfasserIn] |
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| | Kose, Melis [VerfasserIn] |
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| | Kerr, Marina [VerfasserIn] |
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| | Khan, Aneal [VerfasserIn] |
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| | Lenz, Dominic [VerfasserIn] |
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| | McFarland, Robert [VerfasserIn] |
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| | Margolis, Merav Gil [VerfasserIn] |
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| | Morrison, Kevin [VerfasserIn] |
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| | Müller, Thomas [VerfasserIn] |
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| | Murayama, Kei [VerfasserIn] |
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| | Nicastro, Emanuele [VerfasserIn] |
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| | Pennisi, Alessandra [VerfasserIn] |
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| | Peters, Heidi [VerfasserIn] |
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| | Piekutowska-Abramczuk, Dorota [VerfasserIn] |
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| | Rötig, Agnès [VerfasserIn] |
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| | Santer, René [VerfasserIn] |
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| | Scaglia, Fernando [VerfasserIn] |
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| | Schiff, Manuel [VerfasserIn] |
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| | Shagrani, Mohmmad [VerfasserIn] |
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| | Sharrard, Mark [VerfasserIn] |
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| | Soler-Alfonso, Claudia [VerfasserIn] |
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| | Staufner, Christian [VerfasserIn] |
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| | Storey, Imogen [VerfasserIn] |
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| | Stormon, Michael [VerfasserIn] |
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| | Taylor, Robert W. [VerfasserIn] |
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| | Thorburn, David R. [VerfasserIn] |
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| | Teles, Elisa Leao [VerfasserIn] |
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| | Wang, Jian-She [VerfasserIn] |
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| | Weghuber, Daniel [VerfasserIn] |
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| | Wortmann, Saskia [VerfasserIn] |
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| Titel: | Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants |
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| Verf.angabe: | Georg F. Vogel, Yael Mozer-Glassberg, Yuval E. Landau, Lea D. Schlieben, Holger Prokisch, René G. Feichtinger, Johannes A. Mayr, Heiko Brennenstuhl, Julian Schröter, Agnes Pechlaner, Fowzan S. Alkuraya, Joshua J. Baker, Giulia Barcia, Ivo Baric, Nancy Braverman, Birute Burnyte, John Christodoulou, Elzbieta Ciara, David Coman, Anibh M. Das, Niklas Darin, Adela Della Marina, Felix Distelmaier, Erik A. Eklund, Melike Ersoy, Weiyan Fang, Pauline Gaignard, Rebecca D. Ganetzky, Emmanuel Gonzales, Caoimhe Howard, Joanne Hughes, Vassiliki Konstantopoulou, Melis Kose, Marina Kerr, Aneal Khan, Dominic Lenz, Robert McFarland, Merav Gil Margolis, Kevin Morrison, Thomas Müller, Kei Murayama, Emanuele Nicastro, Alessandra Pennisi, Heidi Peters, Dorota Piekutowska-Abramczuk, Agnès Rötig, René Santer, Fernando Scaglia, Manuel Schiff, Mohmmad Shagrani, Mark Sharrard, Claudia Soler-Alfonso, Christian Staufner, Imogen Storey, Michael Stormon, Robert W. Taylor, David R. Thorburn, Elisa Leao Teles, Jian-She Wang, Daniel Weghuber, Saskia Wortmann |
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| E-Jahr: | 2023 |
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| Jahr: | June 2023 |
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| Umfang: | 16 S. |
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| Illustrationen: | Illustrationen |
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| Fussnoten: | Online verfügbar: 29. Oktober 2022, Artikelversion: 2. Juni 2023 ; Gesehen am 08.08.2023 |
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| Titel Quelle: | Enthalten in: Genetics in medicine |
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| Ort Quelle: | Amsterdam : Elsevier, 1998 |
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| Jahr Quelle: | 2023 |
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| Band/Heft Quelle: | 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16 |
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| ISSN Quelle: | 1530-0366 |
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| Abstract: | Purpose - This study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and determine the role of cysteine supplementation in its treatment. - Methods - Individuals with biallelic (likely) pathogenic variants in TRMU were studied within an international retrospective collection of de-identified patient data. - Results - In 62 individuals, including 30 previously unreported cases, we described 47 (likely) pathogenic TRMU variants, of which 17 were novel, and 1 intragenic deletion. Of these 62 individuals, 42 were alive at a median age of 6.8 (0.6-22) years after a median follow-up of 3.6 (0.1-22) years. The most frequent finding, occurring in all but 2 individuals, was liver involvement. ALF occurred only in the first year of life and was reported in 43 of 62 individuals; 11 of whom received liver transplantation. Loss-of-function TRMU variants were associated with poor survival. Supplementation with at least 1 cysteine source, typically N-acetylcysteine, improved survival significantly. Neurodevelopmental delay was observed in 11 individuals and persisted in 4 of the survivors, but we were unable to determine whether this was a primary or a secondary consequence of TRMU deficiency. - Conclusion - In most patients, TRMU-associated ALF was a transient, reversible disease and cysteine supplementation improved survival. |
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| DOI: | doi:10.1016/j.gim.2022.09.015 |
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| URL: | Bitte beachten Sie: Dies ist ein Bibliographieeintrag. Ein Volltextzugriff für Mitglieder der Universität besteht hier nur, falls für die entsprechende Zeitschrift/den entsprechenden Sammelband ein Abonnement besteht oder es sich um einen OpenAccess-Titel handelt.
kostenfrei: Volltext: https://doi.org/10.1016/j.gim.2022.09.015 |
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| | kostenfrei: Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022009534 |
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| | DOI: https://doi.org/10.1016/j.gim.2022.09.015 |
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| Datenträger: | Online-Ressource |
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| Sprache: | eng |
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| Sach-SW: | Acute liver failure |
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| | Cysteine |
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| | Liver transplantation |
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| | Mitochondrial disease |
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| | Reversible |
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| K10plus-PPN: | 1854629123 |
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| Verknüpfungen: | → Zeitschrift |
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Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants / Vogel, Georg [VerfasserIn]; June 2023 (Online-Ressource)
