Acute liver failure (ALF) is a rare but potentially fatal disease in children. The etiology is
multifactorial, including infection, autoimmune, and genetic disorders, as well as …

Abstract Introduction Aminoacyl transfer RNA (tRNA) synthetases are associated with
diseases when mutations occur in their encoding genes. Pulmonary alveolar proteinosis can …

Results: In total, 260 indeterminate PALF patients from 19 countries were recruited between
2011 and 2022, of whom 59 had recurrent PALF. WES established a genetic diagnosis in …

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 …

Background Pulmonary alveolar proteinosis (PAP) is a heterogeneous condition with more
than 100 different underlying disorders that need to be differentiated to target therapeutic …

Mevalonic aciduria (MVA) and hyperimmunoglobulinemia D syndrome (MKD/HIDS) are
disorders of cholesterol biosynthesis caused by variants in the MVK gene and characterized …

Objectives Pathogenic biallelic variants in PCK1 coding for the cytosolic
phosphoenolpyruvate carboxykinase (PEPCK-C) cause PEPCK-C deficiency, a rare …

Purpose Recent reports of individuals with cytoplasmic transfer RNA (tRNA) synthetase-
related disorders have identified cases with phenotypic variability from the index …

Objectives: The Hepatology Committee of the European Society for Pediatric
Gastroenterology, Hepatology and Nutrition (ESPGHAN) aims to educate pediatric …

Aminoacyl‐tRNA synthetases (aaRS) are ubiquitously expressed enzymes responsible for
ligating amino acids to their cognate tRNA molecules through an aminoacylation reaction …