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Pregled bibliografske jedinice broj: 1275462

Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes et al.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants // Genetics in Medicine, S1098-3600(22)00953-4 (2022), S1098-3600(22)00953-4; 100314, 16 doi:10.1016/j.gim.2022.09.015 (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1275462 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

Naslov
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants

Autori
Vogel, Georg F. ; Mozer-Glassberg, Yael ; Landau, Yuval E. ; Schlieben, Lea D. ; Prokisch, Holger ; Feichtinger, René G. ; Mayr, Johannes A. ; Brennenstuhl, Heiko ; Schröter, Julian ; Pechlaner, Agnes ; Alkuraya, Fowzan S. ; Baker, Joshua J. ; Barcia, Giulia ; Baric, Ivo ; Braverman, Nancy ; Burnyte, Birute ; Christodoulou, John ; Ciara, Elzbieta ; Coman, David ; Das, Anibh M. ; Darin, Niklas ; Della Marina, Adela ; Distelmaier, Felix ; Eklund, Erik A. ; Ersoy, Melike ; Fang, Weiyan ; Gaignard, Pauline ; Ganetzky, Rebecca D. ; Gonzales, Emmanuel ; Howard, Caoimhe ; Hughes, Joanne ; Konstantopoulou, Vassiliki ; Kose, Melis ; Kerr, Marina ; Khan, Aneal ; Lenz, Dominic ; McFarland, Robert ; Margolis, Merav Gil ; Morrison, Kevin ; Müller, Thomas ; Murayama, Kei ; Nicastro, Emanuele ; Pennisi, Alessandra ; Peters, Heidi ; Piekutowska-Abramczuk, Dorota ; Rötig, Agnès ; Santer, René ; Scaglia, Fernando ; Schiff, Manuel ; Shagrani, Mohmmad ; Sharrard, Mark ; Soler- Alfonso, Claudia ; Staufner, Christian ; Storey, Imogen ; Stormon, Michael ; Taylor, Robert W. ; Thorburn, David R. ; Teles, Elisa Leao ; Wang, Jian-She ; Weghuber, Daniel ; Wortmann, Saskia

Izvornik
Genetics in Medicine (1098-3600) S1098-3600(22)00953-4 (2022), S1098-3600(22)00953-4; 100314, 16

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
Acute liver failure ; Cysteine ; Liver transplantation ; Mitochondrial disease ; Reversible

Sažetak
Purpose: The study aimed to define the genotypic and phenotypic spectrum of reversible acute liver failure (ALF) of infancy resulting from biallelic pathogenic TRMU variants and to determine the role of cysteine supplementation in its treatment. Methods: Individuals with biallelic (likely) pathogenic variants in TRMU were studied through an international retrospective collection of de- identified patient data. Results: In 62 individuals, including 30 previously unreported cases, we described 48 (likely) pathogenic TRMU variants, of which, 18 were novel. 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 is a transient, reversible disease and cysteine supplementation improved survival.

Izvorni jezik
Engleski

Znanstvena područja
Kliničke medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Zagreb,
Klinički bolnički centar Zagreb

Profili:

Avatar Url Ivo Barić (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, René G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schröter, Julian; Pechlaner, Agnes et al.
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants // Genetics in Medicine, S1098-3600(22)00953-4 (2022), S1098-3600(22)00953-4; 100314, 16 doi:10.1016/j.gim.2022.09.015 (međunarodna recenzija, članak, znanstveni)
Vogel, G., Mozer-Glassberg, Y., Landau, Y., Schlieben, L., Prokisch, H., Feichtinger, R., Mayr, J., Brennenstuhl, H., Schröter, J. & Pechlaner, A. (2022) Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants. Genetics in Medicine, S1098-3600(22)00953-4 (S1098-3600(22)00953-4), 100314, 16 doi:10.1016/j.gim.2022.09.015.
@article{article, author = {Vogel, Georg F. and Mozer-Glassberg, Yael and Landau, Yuval E. and Schlieben, Lea D. and Prokisch, Holger and Feichtinger, Ren\'{e} G. and Mayr, Johannes A. and Brennenstuhl, Heiko and Schr\"{o}ter, Julian and Pechlaner, Agnes and Alkuraya, Fowzan S. and Baker, Joshua J. and Barcia, Giulia and Baric, Ivo and Braverman, Nancy and Burnyte, Birute and Christodoulou, John and Ciara, Elzbieta and Coman, David and Das, Anibh M. and Darin, Niklas and Della Marina, Adela and Distelmaier, Felix and Eklund, Erik A. and Ersoy, Melike and Fang, Weiyan and Gaignard, Pauline and Ganetzky, Rebecca D. and Gonzales, Emmanuel and Howard, Caoimhe and Hughes, Joanne and Konstantopoulou, Vassiliki and Kose, Melis and Kerr, Marina and Khan, Aneal and Lenz, Dominic and McFarland, Robert and Margolis, Merav Gil and Morrison, Kevin and M\"{u}ller, Thomas and Murayama, Kei and Nicastro, Emanuele and Pennisi, Alessandra and Peters, Heidi and Piekutowska-Abramczuk, Dorota and R\"{o}tig, Agn\`{e}s and Santer, Ren\'{e} and Scaglia, Fernando and Schiff, Manuel and Shagrani, Mohmmad and Sharrard, Mark and Soler- Alfonso, Claudia and Staufner, Christian and Storey, Imogen and Stormon, Michael and Taylor, Robert W. and Thorburn, David R. and Teles, Elisa Leao and Wang, Jian-She and Weghuber, Daniel and Wortmann, Saskia}, year = {2022}, pages = {16}, DOI = {10.1016/j.gim.2022.09.015}, chapter = {100314}, keywords = {Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible}, journal = {Genetics in Medicine}, doi = {10.1016/j.gim.2022.09.015}, volume = {S1098-3600(22)00953-4}, number = {S1098-3600(22)00953-4}, issn = {1098-3600}, title = {Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants}, keyword = {Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible}, chapternumber = {100314} }
@article{article, author = {Vogel, Georg F. and Mozer-Glassberg, Yael and Landau, Yuval E. and Schlieben, Lea D. and Prokisch, Holger and Feichtinger, Ren\'{e} G. and Mayr, Johannes A. and Brennenstuhl, Heiko and Schr\"{o}ter, Julian and Pechlaner, Agnes and Alkuraya, Fowzan S. and Baker, Joshua J. and Barcia, Giulia and Baric, Ivo and Braverman, Nancy and Burnyte, Birute and Christodoulou, John and Ciara, Elzbieta and Coman, David and Das, Anibh M. and Darin, Niklas and Della Marina, Adela and Distelmaier, Felix and Eklund, Erik A. and Ersoy, Melike and Fang, Weiyan and Gaignard, Pauline and Ganetzky, Rebecca D. and Gonzales, Emmanuel and Howard, Caoimhe and Hughes, Joanne and Konstantopoulou, Vassiliki and Kose, Melis and Kerr, Marina and Khan, Aneal and Lenz, Dominic and McFarland, Robert and Margolis, Merav Gil and Morrison, Kevin and M\"{u}ller, Thomas and Murayama, Kei and Nicastro, Emanuele and Pennisi, Alessandra and Peters, Heidi and Piekutowska-Abramczuk, Dorota and R\"{o}tig, Agn\`{e}s and Santer, Ren\'{e} and Scaglia, Fernando and Schiff, Manuel and Shagrani, Mohmmad and Sharrard, Mark and Soler- Alfonso, Claudia and Staufner, Christian and Storey, Imogen and Stormon, Michael and Taylor, Robert W. and Thorburn, David R. and Teles, Elisa Leao and Wang, Jian-She and Weghuber, Daniel and Wortmann, Saskia}, year = {2022}, pages = {16}, DOI = {10.1016/j.gim.2022.09.015}, chapter = {100314}, keywords = {Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible}, journal = {Genetics in Medicine}, doi = {10.1016/j.gim.2022.09.015}, volume = {S1098-3600(22)00953-4}, number = {S1098-3600(22)00953-4}, issn = {1098-3600}, title = {Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants}, keyword = {Acute liver failure, Cysteine, Liver transplantation, Mitochondrial disease, Reversible}, chapternumber = {100314} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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