Publications by authors named "Benjamin Millar"

Purpose: To assess the future publication rates of abstracts presented at AANA annual meetings between 2015 and 2019.

Methods: Abstracts presented at the 2015-2019 AANA annual meetings were identified. The PubMed and Google Scholar databases were searched for a corresponding manuscript for each abstract using the name of the first author, abstract title, and keywords.

View Article and Find Full Text PDF

Primary biliary cholangitis (PBC) is a chronic autoimmune liver disease. Approximately 30% of patients do not respond to therapy with ursodeoxycholic acid (UDCA). Previous studies have implicated increased senescence of cholangiocytes in patients who do not respond to UDCA.

View Article and Find Full Text PDF

Desmosterolosis is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic mutations of DHCR24 (homozygous or compound heterozygous), which encodes 3-β-hydroxysterol Δ-24-reductase. We report two sisters homozygous for the 571G>A (E191K) DHCR24 mutation. Comparison of the propositae to other reported individuals shows that psychomotor developmental delay, failure to thrive, dysgenesis of the corpus callosum, cerebral white matter atrophy and spasticity likely constitute the minimal desmosterolosis phenotype.

View Article and Find Full Text PDF