Purpose Pediatric cholestasis is the phenotypic expression of clinically and genetically
heterogeneous disorders of bile acid synthesis and flow. Although a growing number of …

Citrin deficiency is an autosomal recessive metabolic liver disease caused by mutations in
the SLC25A13 gene. The disease typically presents with cholestasis, elevated liver …

Background Quantitative susceptibility mapping (QSM) is a post-processing technique that
creates brain susceptibility maps reflecting metal burden through tissue magnetic …

Genome‐wide approaches, such as whole‐exome sequencing (WES), are widely used to
decipher the genetic mechanisms underlying inter‐individual variability in disease …

Ежегодно в мире выявляется более 120 миллионов случаев терминальной стадии
заболеваний печени и более 2 миллионов смертей (4% от всех летальных случаев) в …

Genetic factors contribute to nearly half of the chronic liver diseases diagnosed in childhood
[1]. Genetic testing is vital in the diagnosis process, significantly influencing the disease's …