Background: Bruck syndrome is an exceedingly rare form of osteogenesis imperfecta, inherited autosomal recessively and presenting with the concurrence of bone fragility and congenital contractures of large joints. The ...

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BACKGROUND: Hydrocarbon-induced occupational liver injury is a well-known clinical entity among petroleum industry workers. There are many types of hydrocarbon exposure, with inhalation being the most common. Hydrocarbon-induced ...

BACKGROUND: Smith-Lemli-Opitz syndrome is a rare autosomal recessive disorder of cholesterol biosynthesis which is characterized by multiple congenital malformations and global developmental delay. Here we report the case ...

Beta-ketothiolase (mitochondrial acetoacetyl-CoA thiolase, T2) deficiency is a rare inborn error of metabolism that is characterized by impaired metabolism of ketones and isoleucine. The condition is inherited as an autosomal ...