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0.05). Also, the results showed that there was no significant statistical difference between Desferal and Desfonak in terms of variables of AST, ALT, ferritin, urea and creatinine at two time periods (P>0.05). Conclusion The results of this study highlighted that Desfonak and Desferal have similar efficacy and safety in patients with thalassemia major. ]]>
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A (p.Arg760His) mutation and a deletion encompassing exons 24-27 of PKHD1 gene were detected in compound heterozygosity in the affected neonate. The complete documentation of the genetic basis of the disease offered the possibility of a targeted prenatal diagnosis in the following pregnancy of the couple. Conclusion Given that the molecular analysis of ARPKD is mainly based on sequencing techniques, the PKHD1 gene exon deletion/duplication screening should be performed as a complementary assay in patients suspected to have ARPKD in the absence of two pathogenic mutations.]]>
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