Litcius/Paper detail

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, D. Caldari, Nicola Dikow, Tobias B. Haack, Andrea Hanson‐Kahn, Inga Harting, Denise Horn, Joanne Hughes, M. 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 B. Wortmann, Stefan Kölker, Georg F. Hoffmann, Holger Prokisch, Marisa I. Mendes, Christian Staufner

2020Genetics in Medicine50 citationsDOIOpen Access PDF

Topics & Concepts

HypotoniaFailure to thriveMedicineLactic acidosisInternal medicineGenotypeEncephalopathyPediatricsGastroenterologyBiologyGeneticsGeneRNA and protein synthesis mechanismsMitochondrial Function and PathologyMetabolism and Genetic Disorders