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Genotypic and pheno...
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants
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- Vogel, G. F. (author)
- Medical University of Innsbruck
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Mozer-Glassberg, Y. (author)
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Landau, Y. E. (author)
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Schlieben, L. D. (author)
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Prokisch, H. (author)
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Feichtinger, R. G. (author)
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Mayr, J. A. (author)
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Brennenstuhl, H. (author)
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Schroter, J. (author)
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Pechlaner, A. (author)
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Alkuraya, F. S. (author)
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Baker, J. J. (author)
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Barcia, G. (author)
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Baric, I. (author)
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Braverman, N. (author)
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Burnyte, B. (author)
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Christodoulou, J. (author)
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Ciara, E. (author)
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Coman, D. (author)
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Das, A. M. (author)
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- Darin, Niklas, 1964 (author)
- Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för pediatrik,Institute of Clinical Sciences, Department of Pediatrics
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Della Marina, A. (author)
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Distelmaier, F. (author)
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- Eklund, E.A. (author)
- Lund University,Lunds universitet,Pediatrik, Lund,Sektion V,Institutionen för kliniska vetenskaper, Lund,Medicinska fakulteten,Paediatrics (Lund),Section V,Department of Clinical Sciences, Lund,Faculty of Medicine
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Ersoy, M. (author)
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Fang, W. Y. (author)
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Gaignard, P. (author)
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Ganetzky, R. D. (author)
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Gonzales, E. (author)
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Howard, C. (author)
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Hughes, J. (author)
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Konstantopoulou, V. (author)
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Kose, M. (author)
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Kerr, M. (author)
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Khan, A. (author)
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Lenz, D. (author)
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McFarland, R. (author)
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Margolis, M. G. (author)
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Morrison, K. (author)
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Muller, T. (author)
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Murayama, K. (author)
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Nicastro, E. (author)
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Pennisi, A. (author)
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Peters, H. (author)
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Piekutowska-Abramczuk, D. (author)
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Rotig, A. (author)
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Santer, R. (author)
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Scaglia, F. (author)
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Sehiff, M. (author)
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Shagrani, M. (author)
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Sharrard, M. (author)
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Soler-Alfonso, C. (author)
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Staufner, C. (author)
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Storey, I. (author)
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Stormon, M. (author)
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Taylor, R. W. (author)
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Thorburn, D. R. (author)
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Teles, E. L. (author)
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Wang, J. S. (author)
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Weghuber, D. (author)
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- Wortmann, S. (author)
- University Hospital Salzburg,Paracelsus Medical University,Amalia Children’s Hospital - Radboudumc Nijmegen
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(creator_code:org_t)
- Elsevier BV, 2023
- 2023
- English.
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In: Genetics in Medicine. - : Elsevier BV. - 1098-3600. ; 25:6
- Related links:
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http://dx.doi.org/10... (free)
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https://gup.ub.gu.se...
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https://doi.org/10.1...
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https://lup.lub.lu.s...
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Abstract
Subject headings
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- 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.
Subject headings
- MEDICIN OCH HÄLSOVETENSKAP -- Medicinska och farmaceutiska grundvetenskaper -- Medicinsk genetik (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Basic Medicine -- Medical Genetics (hsv//eng)
- MEDICIN OCH HÄLSOVETENSKAP -- Klinisk medicin -- Gastroenterologi (hsv//swe)
- MEDICAL AND HEALTH SCIENCES -- Clinical Medicine -- Gastroenterology and Hepatology (hsv//eng)
Keyword
- Acute liver failure
- Cysteine
- Liver transplantation
- Mitochondrial disease
- Reversible
- Treatment
Publication and Content Type
- ref (subject category)
- art (subject category)
Find in a library
To the university's database
- By the author/editor
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Vogel, G. F.
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Mozer-Glassberg, ...
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Landau, Y. E.
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Schlieben, L. D.
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Prokisch, H.
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Feichtinger, R. ...
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show more...
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Mayr, J. A.
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Brennenstuhl, H.
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Schroter, J.
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Pechlaner, A.
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Alkuraya, F. S.
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Baker, J. J.
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Barcia, G.
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Baric, I.
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Braverman, N.
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Burnyte, B.
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Christodoulou, J ...
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Ciara, E.
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Coman, D.
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Das, A. M.
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Darin, Niklas, 1 ...
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Della Marina, A.
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Distelmaier, F.
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Eklund, E.A.
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Ersoy, M.
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Fang, W. Y.
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Gaignard, P.
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Ganetzky, R. D.
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Gonzales, E.
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Howard, C.
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Hughes, J.
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Konstantopoulou, ...
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Kose, M.
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Kerr, M.
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Khan, A.
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Lenz, D.
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McFarland, R.
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Margolis, M. G.
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Morrison, K.
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Muller, T.
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Murayama, K.
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Nicastro, E.
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Pennisi, A.
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Peters, H.
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Piekutowska-Abra ...
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Rotig, A.
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Santer, R.
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Scaglia, F.
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Sehiff, M.
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Shagrani, M.
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Sharrard, M.
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Soler-Alfonso, C ...
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Staufner, C.
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Storey, I.
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Stormon, M.
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Taylor, R. W.
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Thorburn, D. R.
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Teles, E. L.
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Wang, J. S.
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Weghuber, D.
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Wortmann, S.
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show less...
- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Medical Genetics
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Clinical Medicin ...
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and Gastroenterology ...
- Articles in the publication
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Genetics in Medi ...
- By the university
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University of Gothenburg
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Lund University