Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Dominic Lenz; Desirée E C Smith; Ellen Crushell; Ralf A Husain; Gajja S Salomons; Bader Alhaddad; Jonathan A Bernstein; Alyssa Bianzano; Saskia Biskup; Heiko Brennenstuhl; Dominique Caldari; Nicola Dikow; Tobias B Haack; Andrea Hanson-Kahn; Inga Harting; Denise Horn; Joanne Hughes; Maya Huijberts; Bertrand Isidor; Simone Kathemann; Robert Kopajtich; Urania Kotzaeridou; Sébastien Küry; Elke Lainka; Lucia Laugwitz; James R Lupski; Jennifer E Posey; Claire Reynolds; Jill A Rosenfeld; Julian Schröter; Fleur Vansenne; Matias Wagner; Claudia Weiß; Bruce H R Wolffenbuttel; Saskia Wortmann; Stefan Kölker; Georg F Hoffmann; Holger Prokisch; Marisa I Mendes; Christian Staufner

doi:10.1038/s41436-020-0904-4

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

Dominic Lenz, Desirée E C Smith, Ellen Crushell, Ralf A Husain, Gajja S Salomons, Bader Alhaddad, Jonathan A Bernstein, Alyssa Bianzano, Saskia Biskup, Heiko Brennenstuhl, Dominique Caldari, Nicola Dikow, Tobias B Haack, Andrea Hanson-Kahn, Inga Harting, Denise Horn, Joanne Hughes, Maya Huijberts, Bertrand Isidor, Simone KathemannRobert Kopajtich, Urania Kotzaeridou, Sébastien Küry, Elke Lainka, Lucia Laugwitz, James R Lupski, Jennifer E Posey, Claire Reynolds, Jill A Rosenfeld, Julian Schröter, Fleur Vansenne, Matias Wagner, Claudia Weiß, Bruce H R Wolffenbuttel, Saskia Wortmann (Co-author), Stefan Kölker, Georg F Hoffmann, Holger Prokisch, Marisa I Mendes, Christian Staufner

Department of Pediatrics

Research output: Contribution to journal › Original Article (Journal) › peer-review

24 Citations (Web of Science)

Original language	English
Pages (from-to)	1863-1873
Journal	GENETICS IN MEDICINE
Volume	22
Issue number	11
DOIs	https://doi.org/10.1038/s41436-020-0904-4
Publication status	Published - 2020

Keywords

TRANSFER-RNA SYNTHETASES
RECESSIVE MUTATIONS
DISEASE
HOMEOSTASIS
MECHANISMS
ONSET

Access to Document

10.1038/s41436-020-0904-4

Cite this

Lenz, D., Smith, D. E. C., Crushell, E., Husain, R. A., Salomons, G. S., Alhaddad, B., Bernstein, J. A., Bianzano, A., Biskup, S., Brennenstuhl, H., Caldari, D., Dikow, N., Haack, T. B., Hanson-Kahn, A., Harting, I., Horn, D., Hughes, J., Huijberts, M., Isidor, B., ... Staufner, C. (2020). Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. GENETICS IN MEDICINE , 22(11), 1863-1873. https://doi.org/10.1038/s41436-020-0904-4

Lenz, Dominic ; Smith, Desirée E C ; Crushell, Ellen et al. / Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. In: GENETICS IN MEDICINE 2020 ; Vol. 22, No. 11. pp. 1863-1873.

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title = "Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.",

keywords = "TRANSFER-RNA SYNTHETASES, RECESSIVE MUTATIONS, DISEASE, HOMEOSTASIS, MECHANISMS, ONSET",

author = "Dominic Lenz and Smith, {Desir{\'e}e E C} and Ellen Crushell and Husain, {Ralf A} and Salomons, {Gajja S} and Bader Alhaddad and Bernstein, {Jonathan A} and Alyssa Bianzano and Saskia Biskup and Heiko Brennenstuhl and Dominique Caldari and Nicola Dikow and Haack, {Tobias B} and Andrea Hanson-Kahn and Inga Harting and Denise Horn and Joanne Hughes and Maya Huijberts and Bertrand Isidor and Simone Kathemann and Robert Kopajtich and Urania Kotzaeridou and S{\'e}bastien K{\"u}ry and Elke Lainka and Lucia Laugwitz and Lupski, {James R} and Posey, {Jennifer E} and Claire Reynolds and Rosenfeld, {Jill A} and Julian Schr{\"o}ter and Fleur Vansenne and Matias Wagner and Claudia Wei{\ss} and Wolffenbuttel, {Bruce H R} and Saskia Wortmann and Stefan K{\"o}lker and Hoffmann, {Georg F} and Holger Prokisch and Mendes, {Marisa I} and Christian Staufner",

note = "Wortmann: Salzburger Landeskliniken *** Paracelsus Med Univ, Dept Pediat, Salzburg, Austria",

year = "2020",

doi = "10.1038/s41436-020-0904-4",

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Lenz, D, Smith, DEC, Crushell, E, Husain, RA, Salomons, GS, Alhaddad, B, Bernstein, JA, Bianzano, A, Biskup, S, Brennenstuhl, H, Caldari, D, Dikow, N, Haack, TB, Hanson-Kahn, A, Harting, I, Horn, D, Hughes, J, Huijberts, M, Isidor, B, Kathemann, S, Kopajtich, R, Kotzaeridou, U, Küry, S, Lainka, E, Laugwitz, L, Lupski, JR, Posey, JE, Reynolds, C, Rosenfeld, JA, Schröter, J, Vansenne, F, Wagner, M, Weiß, C, Wolffenbuttel, BHR, Wortmann, S, Kölker, S, Hoffmann, GF, Prokisch, H, Mendes, MI & Staufner, C 2020, 'Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.', GENETICS IN MEDICINE , vol. 22, no. 11, pp. 1863-1873. https://doi.org/10.1038/s41436-020-0904-4

Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. / Lenz, Dominic; Smith, Desirée E C; Crushell, Ellen et al.
In: GENETICS IN MEDICINE , Vol. 22, No. 11, 2020, p. 1863-1873.

Research output: Contribution to journal › Original Article (Journal) › peer-review

TY - JOUR

T1 - Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1.

AU - Lenz, Dominic

AU - Smith, Desirée E C

AU - Crushell, Ellen

AU - Husain, Ralf A

AU - Salomons, Gajja S

AU - Alhaddad, Bader

AU - Bernstein, Jonathan A

AU - Bianzano, Alyssa

AU - Biskup, Saskia

AU - Brennenstuhl, Heiko

AU - Caldari, Dominique

AU - Dikow, Nicola

AU - Haack, Tobias B

AU - Hanson-Kahn, Andrea

AU - Harting, Inga

AU - Horn, Denise

AU - Hughes, Joanne

AU - Huijberts, Maya

AU - Isidor, Bertrand

AU - Kathemann, Simone

AU - Kopajtich, Robert

AU - Kotzaeridou, Urania

AU - Küry, Sébastien

AU - Lainka, Elke

AU - Laugwitz, Lucia

AU - Lupski, James R

AU - Posey, Jennifer E

AU - Reynolds, Claire

AU - Rosenfeld, Jill A

AU - Schröter, Julian

AU - Vansenne, Fleur

AU - Wagner, Matias

AU - Weiß, Claudia

AU - Wolffenbuttel, Bruce H R

AU - Wortmann, Saskia

AU - Kölker, Stefan

AU - Hoffmann, Georg F

AU - Prokisch, Holger

AU - Mendes, Marisa I

AU - Staufner, Christian

N1 - Wortmann: Salzburger Landeskliniken *** Paracelsus Med Univ, Dept Pediat, Salzburg, Austria

PY - 2020

Y1 - 2020

KW - TRANSFER-RNA SYNTHETASES

KW - RECESSIVE MUTATIONS

KW - DISEASE

KW - HOMEOSTASIS

KW - MECHANISMS

KW - ONSET

U2 - 10.1038/s41436-020-0904-4

DO - 10.1038/s41436-020-0904-4

M3 - Original Article (Journal)

C2 - 32699352

SN - 1098-3600

VL - 22

SP - 1863

EP - 1873

JO - GENETICS IN MEDICINE

JF - GENETICS IN MEDICINE

IS - 11

ER -

Lenz D, Smith DEC, Crushell E, Husain RA, Salomons GS, Alhaddad B et al. Genotypic diversity and phenotypic spectrum of infantile liver failure syndrome type 1 due to variants in LARS1. GENETICS IN MEDICINE . 2020;22(11):1863-1873. doi: 10.1038/s41436-020-0904-4