Novel mutation causing propionic acidemia associated with unexplained autoimmune thyrotoxicosis
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DOI: 10.1016/j.ymgmr.2021.100806
Abstract: Propionic acidemia (PA) is a rare autosomal recessive inborn error of metabolism (IEM) with relatively higher prevalence in the United Arab Emirates (UAE). Absence of propionyl-CoA carboxylase (PCC) enzyme classically leads to acute decompensation in… read more here.
Keywords: thyrotoxicosis; novel mutation; causing propionic; propionic acidemia ... See more keywords