Background Bile acid synthesis defects (BASDs) can be severely disabling involving the
liver and nervous system, potentially due to elevated levels of toxic C27-bile acid …

Abstract Background Dubin-Johnson syndrome (DJS) is a rare autosomal recessive
disorder characterized by predominantly conjugated hyperbilirubinemia that is caused by …

Objectives: 3β-hydroxy-Δ5-C27-steroid dehydrogenase deficiency is a rare autosomal
recessive condition. So far fewer than 100 cases have been reported and the factors …

Background Biallelic variants in HSD3B7 cause 3β-hydroxy-Δ 5-C 27-steroid
oxidoreductase (HSD3B7) deficiency, a life-threatening but treatable liver disease. The goal …

Bile acid synthesis defects (BASDs) comprise a group of rare diseases that can be severely
disabling. Bile acid supplementation with 5 to 15 mg/kg cholic acid (CA) has been …

Objectives HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7
gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates …

Several metabolic pathways are involved in the biotransformation of C27 neutral cholesterol
to C24 primary bile acids (BAs), mainly cholic acid (CA) and chenodeoxycholic acid (CDCA) …

Objectives: HSD3B7 deficiency is a genetic disorder caused by mutations in the HSD3B7
gene, leading to impaired bile acid synthesis and the accumulation of toxic intermediates …

Com a rápida evolução da tecnologia digital, base do processo de inovação digital,
surgiram as plataformas de streaming, um meio de distribuição que passou a ter um papel …

Among endocrine cancers, thyroid data is common cancer. Thyroid cancer has a mortality
rate of 3.1$\% $ and its incidence has tripled in the last 30 years. However, most patients …