Abstract Background Real-time RT-PCR has become a common and robust technique to detect and quantify low-abundance mRNA expression and is a prefered tool when examining fungal gene expression in infected host tissues.However, correct evaluation of gene expression data requires accurate and reliable normalization against a reference transcript.Thus,
BackgroundDuchenne muscular dystrophy (DMD) is an X-linked inherited myopathy that causes progressive skeletal and cardiac muscle disease.Heart lesions were described in the earliest DMD reports, and cardiomyopathy is now the leading cause of death.However, diagnostics and treatment for cardiomyopathy have lagged behind those for appendicular and r
Hereditary orotic aciduria (HOA) is a very rare inborn error of pyrimidine metabolism.It results from a defect of the uridine-5-monophosphate synthase (UMPS) gene.To date, only about twenty patients have been described.We report a case of HOA with a novel variant in the UMPS gene.A 17-year-old Emirati girl was born to first-cousin parents.During th