MRI in LARS1 deficiency—Spectrum, patterns, and correlation with acute neurological deterioration

Leucine aminoacyl tRNA‐synthetase 1 (LARS1)‐deficiency (infantile liver failure syndrome type 1 (ILFS1)) has a multisystemic phenotype including fever‐associated acute liver failure (ALF), chronic neurologic abnormalities, and encephalopathic episodes. In order to better characterize encephalopathic...

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Veröffentlicht in:	Journal of inherited metabolic disease 2024-09, Vol.47 (5), p.1028-1046
Hauptverfasser:	Hammann, Nicole, Lenz, Dominic, Bianzano, Alyssa, Husain, Ralf A., Forman, Eva, Bernstein, Jonathan A., Dattner, Tal, Engelen, Marc, Hanson‐Kahn, Andrea K., Isidor, Bertrand, Kotzaeridou, Urania, Tietze, Anna, Trollmann, Regina, Weiß, Claudia, Wolffenbuttel, Bruce H. R., Kölker, Stefan, Hoffmann, Georg F., Crushell, Ellen, Staufner, Christian, Mohr, Alexander, Harting, Inga
Format:	Artikel
Sprache:	eng
Schlagworte:	acute liver failure Adolescent aminoacyl‐tRNA synthetase deficiencies Atrophy Brain stem cerebellar watershed Cerebellum Child Child, Preschool encephalopathy Female Fever Gray Matter - diagnostic imaging Gray Matter - pathology Hepatic encephalopathy Humans ILFS1 Infant Infections LARS1 Liver diseases Liver Failure, Acute Liver transplantation Magnetic Resonance Imaging Male metabolic stroke MRI Myelination Phenotypes Seizures Substantia grisea thalamus tRNA Leu Vaccination
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