Cover Image

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

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) pathoge...

Full description

Saved in:
Bibliographic Details
Main Authors: Vogel, Georg (Author) , Mozer-Glassberg, Yael (Author) , Landau, Yuval E. (Author) , Schlieben, Lea D. (Author) , Prokisch, Holger (Author) , Feichtinger, René G. (Author) , Mayr, Johannes A. (Author) , Brennenstuhl, Heiko (Author) , Schröter, Julian (Author) , Pechlaner, Agnes (Author) , Alkuraya, Fowzan S. (Author) , Baker, Joshua J. (Author) , Barcia, Giulia (Author) , Baric, Ivo (Author) , Braverman, Nancy (Author) , Burnyte, Birute (Author) , Christodoulou, John (Author) , Ciara, Elzbieta (Author) , Coman, David (Author) , Das, Anibh M. (Author) , Darin, Niklas (Author) , Della Marina, Adela (Author) , Distelmaier, Felix (Author) , Eklund, Erik A. (Author) , Ersoy, Melike (Author) , Fang, Weiyan (Author) , Gaignard, Pauline (Author) , Ganetzky, Rebecca D. (Author) , Gonzales, Emmanuel (Author) , Howard, Caoimhe (Author) , Hughes, Joanne (Author) , Konstantopoulou, Vassiliki (Author) , Kose, Melis (Author) , Kerr, Marina (Author) , Khan, Aneal (Author) , Lenz, Dominic (Author) , McFarland, Robert (Author) , Margolis, Merav Gil (Author) , Morrison, Kevin (Author) , Müller, Thomas (Author) , Murayama, Kei (Author) , Nicastro, Emanuele (Author) , Pennisi, Alessandra (Author) , Peters, Heidi (Author) , Piekutowska-Abramczuk, Dorota (Author) , Rötig, Agnès (Author) , Santer, René (Author) , Scaglia, Fernando (Author) , Schiff, Manuel (Author) , Shagrani, Mohmmad (Author) , Sharrard, Mark (Author) , Soler-Alfonso, Claudia (Author) , Staufner, Christian (Author) , Storey, Imogen (Author) , Stormon, Michael (Author) , Taylor, Robert W. (Author) , Thorburn, David R. (Author) , Teles, Elisa Leao (Author) , Wang, Jian-She (Author) , Weghuber, Daniel (Author) , Wortmann, Saskia (Author)
Format: Article (Journal)
Language:English
Published: June 2023
In: Genetics in medicine
Year: 2023, Volume: 25, Issue: 6, Pages: 1-16
ISSN:1530-0366
DOI:10.1016/j.gim.2022.09.015
Online Access:Verlag, kostenfrei, Volltext: https://doi.org/10.1016/j.gim.2022.09.015
Verlag, kostenfrei, Volltext: https://www.sciencedirect.com/science/article/pii/S1098360022009534
Get full text
Author Notes: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

MARC

LEADER 00000caa a2200000 c 4500
001 1854629123
003 DE-627
005 20240307062745.0
007 cr uuu---uuuuu
008 230808s2023 xx |||||o 00| ||eng c
024 7 |a 10.1016/j.gim.2022.09.015  |2 doi 
035 |a (DE-627)1854629123 
035 |a (DE-599)KXP1854629123 
035 |a (OCoLC)1425213246 
040 |a DE-627  |b ger  |c DE-627  |e rda 
041 |a eng 
084 |a 33  |2 sdnb 
100 1 |a Vogel, Georg  |e VerfasserIn  |0 (DE-588)1298765811  |0 (DE-627)1854630016  |4 aut 
245 1 0 |a Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants  |c 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 
264 1 |c June 2023 
300 |b Illustrationen 
300 |a 16 
336 |a Text  |b txt  |2 rdacontent 
337 |a Computermedien  |b c  |2 rdamedia 
338 |a Online-Ressource  |b cr  |2 rdacarrier 
500 |a Online verfügbar: 29. Oktober 2022, Artikelversion: 2. Juni 2023 
500 |a Gesehen am 08.08.2023 
520 |a 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. 
650 4 |a Acute liver failure 
650 4 |a Cysteine 
650 4 |a Liver transplantation 
650 4 |a Mitochondrial disease 
650 4 |a Reversible 
700 1 |a Mozer-Glassberg, Yael  |e VerfasserIn  |4 aut 
700 1 |a Landau, Yuval E.  |e VerfasserIn  |4 aut 
700 1 |a Schlieben, Lea D.  |e VerfasserIn  |4 aut 
700 1 |a Prokisch, Holger  |e VerfasserIn  |4 aut 
700 1 |a Feichtinger, René G.  |e VerfasserIn  |4 aut 
700 1 |a Mayr, Johannes A.  |e VerfasserIn  |4 aut 
700 1 |a Brennenstuhl, Heiko  |d 1987-  |e VerfasserIn  |0 (DE-588)1105686965  |0 (DE-627)862755344  |0 (DE-576)473681382  |4 aut 
700 1 |a Schröter, Julian  |d 1989-  |e VerfasserIn  |0 (DE-588)1059101629  |0 (DE-627)797963308  |0 (DE-576)415127343  |4 aut 
700 1 |a Pechlaner, Agnes  |e VerfasserIn  |4 aut 
700 1 |a Alkuraya, Fowzan S.  |e VerfasserIn  |4 aut 
700 1 |a Baker, Joshua J.  |e VerfasserIn  |4 aut 
700 1 |a Barcia, Giulia  |e VerfasserIn  |4 aut 
700 1 |a Baric, Ivo  |e VerfasserIn  |4 aut 
700 1 |a Braverman, Nancy  |e VerfasserIn  |4 aut 
700 1 |a Burnyte, Birute  |e VerfasserIn  |4 aut 
700 1 |a Christodoulou, John  |e VerfasserIn  |4 aut 
700 1 |a Ciara, Elzbieta  |e VerfasserIn  |4 aut 
700 1 |a Coman, David  |e VerfasserIn  |4 aut 
700 1 |a Das, Anibh M.  |e VerfasserIn  |4 aut 
700 1 |a Darin, Niklas  |e VerfasserIn  |4 aut 
700 1 |a Della Marina, Adela  |e VerfasserIn  |4 aut 
700 1 |a Distelmaier, Felix  |e VerfasserIn  |4 aut 
700 1 |a Eklund, Erik A.  |e VerfasserIn  |4 aut 
700 1 |a Ersoy, Melike  |e VerfasserIn  |4 aut 
700 1 |a Fang, Weiyan  |e VerfasserIn  |4 aut 
700 1 |a Gaignard, Pauline  |e VerfasserIn  |4 aut 
700 1 |a Ganetzky, Rebecca D.  |e VerfasserIn  |4 aut 
700 1 |a Gonzales, Emmanuel  |e VerfasserIn  |4 aut 
700 1 |a Howard, Caoimhe  |e VerfasserIn  |4 aut 
700 1 |a Hughes, Joanne  |e VerfasserIn  |4 aut 
700 1 |a Konstantopoulou, Vassiliki  |e VerfasserIn  |4 aut 
700 1 |a Kose, Melis  |e VerfasserIn  |4 aut 
700 1 |a Kerr, Marina  |e VerfasserIn  |4 aut 
700 1 |a Khan, Aneal  |e VerfasserIn  |4 aut 
700 1 |a Lenz, Dominic  |d 1984-  |e VerfasserIn  |0 (DE-588)1047559943  |0 (DE-627)778553914  |0 (DE-576)401159140  |4 aut 
700 1 |a McFarland, Robert  |e VerfasserIn  |4 aut 
700 1 |a Margolis, Merav Gil  |e VerfasserIn  |4 aut 
700 1 |a Morrison, Kevin  |e VerfasserIn  |4 aut 
700 1 |a Müller, Thomas  |e VerfasserIn  |4 aut 
700 1 |a Murayama, Kei  |e VerfasserIn  |4 aut 
700 1 |a Nicastro, Emanuele  |e VerfasserIn  |4 aut 
700 1 |a Pennisi, Alessandra  |e VerfasserIn  |4 aut 
700 1 |a Peters, Heidi  |e VerfasserIn  |4 aut 
700 1 |a Piekutowska-Abramczuk, Dorota  |e VerfasserIn  |4 aut 
700 1 |a Rötig, Agnès  |e VerfasserIn  |4 aut 
700 1 |a Santer, René  |e VerfasserIn  |4 aut 
700 1 |a Scaglia, Fernando  |e VerfasserIn  |4 aut 
700 1 |a Schiff, Manuel  |e VerfasserIn  |4 aut 
700 1 |a Shagrani, Mohmmad  |e VerfasserIn  |4 aut 
700 1 |a Sharrard, Mark  |e VerfasserIn  |4 aut 
700 1 |a Soler-Alfonso, Claudia  |e VerfasserIn  |4 aut 
700 1 |a Staufner, Christian  |d 1980-  |e VerfasserIn  |0 (DE-588)141097515  |0 (DE-627)703880950  |0 (DE-576)321299469  |4 aut 
700 1 |a Storey, Imogen  |e VerfasserIn  |4 aut 
700 1 |a Stormon, Michael  |e VerfasserIn  |4 aut 
700 1 |a Taylor, Robert W.  |e VerfasserIn  |4 aut 
700 1 |a Thorburn, David R.  |e VerfasserIn  |4 aut 
700 1 |a Teles, Elisa Leao  |e VerfasserIn  |4 aut 
700 1 |a Wang, Jian-She  |e VerfasserIn  |4 aut 
700 1 |a Weghuber, Daniel  |e VerfasserIn  |4 aut 
700 1 |a Wortmann, Saskia  |e VerfasserIn  |4 aut 
773 0 8 |i Enthalten in  |t Genetics in medicine  |d Amsterdam : Elsevier, 1998  |g 25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16  |h Online-Ressource  |w (DE-627)338073361  |w (DE-600)2063504-7  |w (DE-576)109132475  |x 1530-0366  |7 nnas  |a Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants 
773 1 8 |g volume:25  |g year:2023  |g number:6  |g month:06  |g elocationid:100314  |g pages:1-16  |g extent:16  |a Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants 
856 4 0 |u https://doi.org/10.1016/j.gim.2022.09.015  |x Verlag  |x Resolving-System  |z kostenfrei  |3 Volltext 
856 4 0 |u https://www.sciencedirect.com/science/article/pii/S1098360022009534  |x Verlag  |z kostenfrei  |3 Volltext 
951 |a AR 
992 |a 20230808 
993 |a Article 
994 |a 2023 
998 |g 141097515  |a Staufner, Christian  |m 141097515:Staufner, Christian  |d 910000  |d 910500  |d 50000  |e 910000PS141097515  |e 910500PS141097515  |e 50000PS141097515  |k 0/910000/  |k 1/910000/910500/  |k 0/50000/  |p 53 
998 |g 1047559943  |a Lenz, Dominic  |m 1047559943:Lenz, Dominic  |d 910000  |d 910500  |e 910000PL1047559943  |e 910500PL1047559943  |k 0/910000/  |k 1/910000/910500/  |p 36 
998 |g 1059101629  |a Schröter, Julian  |m 1059101629:Schröter, Julian  |d 910000  |d 910500  |e 910000PS1059101629  |e 910500PS1059101629  |k 0/910000/  |k 1/910000/910500/  |p 9 
998 |g 1105686965  |a Brennenstuhl, Heiko  |m 1105686965:Brennenstuhl, Heiko  |d 910000  |d 911500  |e 910000PB1105686965  |e 911500PB1105686965  |k 0/910000/  |k 1/910000/911500/  |p 8 
999 |a KXP-PPN1854629123  |e 4363661364 
BIB |a Y 
SER |a journal 
JSO |a {"relHost":[{"titleAlt":[{"title":"GIM"}],"note":["Gesehen am 27.07.2023"],"pubHistory":["1.1998/99 -"],"part":{"issue":"6","year":"2023","volume":"25","pages":"1-16","text":"25(2023), 6 vom: Juni, Artikel-ID 100314, Seite 1-16","extent":"16"},"corporate":[{"display":"American College of Medical Genetics","role":"isb"}],"type":{"bibl":"periodical","media":"Online-Ressource"},"physDesc":[{"extent":"Online-Ressource"}],"language":["eng"],"title":[{"title_sort":"Genetics in medicine","subtitle":"official journal of the American College of Medical Genetics","title":"Genetics in medicine"}],"recId":"338073361","disp":"Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variantsGenetics in medicine","id":{"eki":["338073361"],"issn":["1530-0366"],"zdb":["2063504-7"]},"origin":[{"dateIssuedDisp":"1998-","dateIssuedKey":"1998","publisher":"Elsevier ; Springer Nature ; Lippincott, Williams & Wilkins","publisherPlace":"Amsterdam ; London, UK ; Baltimore, Md."}]}],"note":["Online verfügbar: 29. Oktober 2022, Artikelversion: 2. Juni 2023","Gesehen am 08.08.2023"],"id":{"doi":["10.1016/j.gim.2022.09.015"],"eki":["1854629123"]},"origin":[{"dateIssuedKey":"2023","dateIssuedDisp":"June 2023"}],"name":{"displayForm":["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"]},"recId":"1854629123","person":[{"display":"Vogel, Georg","family":"Vogel","role":"aut","given":"Georg"},{"display":"Mozer-Glassberg, Yael","family":"Mozer-Glassberg","role":"aut","given":"Yael"},{"family":"Landau","role":"aut","given":"Yuval E.","display":"Landau, Yuval E."},{"display":"Schlieben, Lea D.","family":"Schlieben","given":"Lea D.","role":"aut"},{"given":"Holger","role":"aut","family":"Prokisch","display":"Prokisch, Holger"},{"display":"Feichtinger, René G.","family":"Feichtinger","given":"René G.","role":"aut"},{"display":"Mayr, Johannes A.","role":"aut","given":"Johannes A.","family":"Mayr"},{"role":"aut","given":"Heiko","family":"Brennenstuhl","display":"Brennenstuhl, Heiko"},{"display":"Schröter, Julian","family":"Schröter","given":"Julian","role":"aut"},{"display":"Pechlaner, Agnes","family":"Pechlaner","given":"Agnes","role":"aut"},{"display":"Alkuraya, Fowzan S.","family":"Alkuraya","given":"Fowzan S.","role":"aut"},{"role":"aut","given":"Joshua J.","family":"Baker","display":"Baker, Joshua J."},{"family":"Barcia","given":"Giulia","role":"aut","display":"Barcia, Giulia"},{"role":"aut","given":"Ivo","family":"Baric","display":"Baric, Ivo"},{"family":"Braverman","given":"Nancy","role":"aut","display":"Braverman, Nancy"},{"given":"Birute","role":"aut","family":"Burnyte","display":"Burnyte, Birute"},{"role":"aut","given":"John","family":"Christodoulou","display":"Christodoulou, John"},{"display":"Ciara, Elzbieta","family":"Ciara","given":"Elzbieta","role":"aut"},{"display":"Coman, David","role":"aut","given":"David","family":"Coman"},{"display":"Das, Anibh M.","family":"Das","given":"Anibh M.","role":"aut"},{"display":"Darin, Niklas","role":"aut","given":"Niklas","family":"Darin"},{"role":"aut","given":"Adela","family":"Della Marina","display":"Della Marina, Adela"},{"family":"Distelmaier","role":"aut","given":"Felix","display":"Distelmaier, Felix"},{"role":"aut","given":"Erik A.","family":"Eklund","display":"Eklund, Erik A."},{"display":"Ersoy, Melike","given":"Melike","role":"aut","family":"Ersoy"},{"role":"aut","given":"Weiyan","family":"Fang","display":"Fang, Weiyan"},{"family":"Gaignard","role":"aut","given":"Pauline","display":"Gaignard, Pauline"},{"given":"Rebecca D.","role":"aut","family":"Ganetzky","display":"Ganetzky, Rebecca D."},{"role":"aut","given":"Emmanuel","family":"Gonzales","display":"Gonzales, Emmanuel"},{"role":"aut","given":"Caoimhe","family":"Howard","display":"Howard, Caoimhe"},{"display":"Hughes, Joanne","family":"Hughes","role":"aut","given":"Joanne"},{"display":"Konstantopoulou, Vassiliki","given":"Vassiliki","role":"aut","family":"Konstantopoulou"},{"family":"Kose","given":"Melis","role":"aut","display":"Kose, Melis"},{"display":"Kerr, Marina","family":"Kerr","role":"aut","given":"Marina"},{"family":"Khan","role":"aut","given":"Aneal","display":"Khan, Aneal"},{"display":"Lenz, Dominic","family":"Lenz","role":"aut","given":"Dominic"},{"role":"aut","given":"Robert","family":"McFarland","display":"McFarland, Robert"},{"display":"Margolis, Merav Gil","family":"Margolis","given":"Merav Gil","role":"aut"},{"display":"Morrison, Kevin","family":"Morrison","role":"aut","given":"Kevin"},{"role":"aut","given":"Thomas","family":"Müller","display":"Müller, Thomas"},{"display":"Murayama, Kei","family":"Murayama","role":"aut","given":"Kei"},{"display":"Nicastro, Emanuele","family":"Nicastro","given":"Emanuele","role":"aut"},{"display":"Pennisi, Alessandra","role":"aut","given":"Alessandra","family":"Pennisi"},{"display":"Peters, Heidi","given":"Heidi","role":"aut","family":"Peters"},{"display":"Piekutowska-Abramczuk, Dorota","family":"Piekutowska-Abramczuk","role":"aut","given":"Dorota"},{"display":"Rötig, Agnès","given":"Agnès","role":"aut","family":"Rötig"},{"family":"Santer","given":"René","role":"aut","display":"Santer, René"},{"display":"Scaglia, Fernando","family":"Scaglia","given":"Fernando","role":"aut"},{"display":"Schiff, Manuel","given":"Manuel","role":"aut","family":"Schiff"},{"family":"Shagrani","given":"Mohmmad","role":"aut","display":"Shagrani, Mohmmad"},{"role":"aut","given":"Mark","family":"Sharrard","display":"Sharrard, Mark"},{"given":"Claudia","role":"aut","family":"Soler-Alfonso","display":"Soler-Alfonso, Claudia"},{"family":"Staufner","role":"aut","given":"Christian","display":"Staufner, Christian"},{"family":"Storey","role":"aut","given":"Imogen","display":"Storey, Imogen"},{"display":"Stormon, Michael","family":"Stormon","given":"Michael","role":"aut"},{"family":"Taylor","given":"Robert W.","role":"aut","display":"Taylor, Robert W."},{"display":"Thorburn, David R.","role":"aut","given":"David R.","family":"Thorburn"},{"display":"Teles, Elisa Leao","family":"Teles","role":"aut","given":"Elisa Leao"},{"display":"Wang, Jian-She","given":"Jian-She","role":"aut","family":"Wang"},{"family":"Weghuber","role":"aut","given":"Daniel","display":"Weghuber, Daniel"},{"display":"Wortmann, Saskia","role":"aut","given":"Saskia","family":"Wortmann"}],"title":[{"title":"Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants","title_sort":"Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants"}],"type":{"bibl":"article-journal","media":"Online-Ressource"},"physDesc":[{"extent":"16 S.","noteIll":"Illustrationen"}],"language":["eng"]} 
SRT |a VOGELGEORGGENOTYPICA2023 

Similar Items