Heterozygosis for CYP21A2 mutation considered as 21-hydroxylase deficiency in neonatal screening

Follow-up of infants with risk indicators for hearing loss (RIHL) referred to a Neonatal Hearing Screening Reference Service (NHSRS) of a University Hospital of Belo Horizonte

In the present study we found that 15.8% of patients had alleles carrying more than one mutation; most of them were compound heterozygotes, and the clinical form was correlated with

In conclusion, the most common mutations found worldwide were identified in patients from the Brazilian Amazon region, but the prevalence of null mutations was one of the highest in

Neonatal screening programs for cystic ibrosis (CF) usually consist of an immunoreactive trypsinogen assay.. The objective of this study was to validate the AutoDELFIA®

After the implementation of the neonatal screening test in Maranhão there was a significant reduction in the median age of hospitalized SCD patients, from 11.4 years in the

Célia Maria Cardoso de Rezende Limeira 2 Eduardo Rodrigues Viana de Lima 3 Resumo: Envolto na perspectiva do desenvolvimento sustentável e das ações de sensibilização e

In Brazil, the National Neonatal Screening Program was set up in 2001, to screen for phenylketonuria, congenital hypothyroidism, sickle-cell anemia and cystic fibrosis.. Screening for

The present study assessed the ability of various TSHneo cutoff values to detect CH cases and evaluated the effects of these levels on neonatal screening for CH in a population...