With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

Neonatal and infantile cholestasis (NIC) can represent the onset of a surgically correctable
disease and of a genetic or metabolic disorder worthy of medical treatment. Timely …

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 …

MTU1 controls intramitochondrial protein synthesis by catalyzing the 2-thiouridine
modification of mitochondrial transfer RNAs (mt-tRNAs). Missense mutations in the MTU1 …

Acute liver failure (ALF) is a clinical condition characterized by the abrupt onset of
coagulopathy and biochemical evidence of hepatocellular injury, leading to rapid …

With the application of modern investigative technologies, cholestatic liver diseases of
genetic etiology are increasingly identified as the root cause of previously designated …

Objective: To evaluate the clinical utility of panel-based NGS in the diagnostic approach of
monogenic cholestatic liver diseases. Study design: Patients with diagnosis of chronic …

Many inherited conditions cause cholestasis in the neonate or infant. Next-generation
sequencing methods can facilitate a prompt diagnosis in some of these cases; application of …

Biliary atresia, a fibro-obliterative disease of the newborn, is usually initially treated by Kasai
portoenterostomy, although there are many variations in technique and different options for …

Background & Aims Progressive familial intrahepatic cholestasis (PFIC) relates to a group of
rare, debilitating, liver disorders which typically present in early childhood, but have also …