GENOTYPE-PHENOTYPE CORRELATION IN PHENYLKETONURIA

Genotype-phenotype correlation in phenylketonuria

Introduction.Phenylketonuria is an inborn metabolism error with a high phenotypical variability, due in part to the large number of implicated genetical variants (over 1200 reported) but also due to other factors.Establishing a genotype=phenotype correlation, accessible today through molecular testing, KERATIN COND is an important instrument for di

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Bilateral microsporidial keratoconjunctivitis in a clinically healthy female receiving intravitreal steroid injections: Associations and potential risk factors

Purpose: To present a unique case of bilateral microsporidial keratoconjunctivitis in a clinically healthy female receiving intravitreal steroid injections, and explore several associations and potential risk factors.Observations: A 75-year-old woman with chronic idiopathic anterior uveitis was receiving regular intravitreal steroid in both eyes Ma

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Bacteria in Cancer Therapy: Renaissance of an Old Concept

The rising incidence of cancer cases worldwide generates an urgent need of novel treatment options.Applying bacteria may represent a valuable therapeutic variant that is intensively investigated nowadays.Interestingly, the idea to apply bacteria wittingly or unwittingly dates back to ancient times and was revived in the 19th century mainly by the p

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