Political analysis of the neonatal screening for severe combined immunodeficiency - Curitiba, Brazil
Sign Up to like & getrecommendations! Published in 2020 at "European Journal of Public Health"
DOI: 10.1093/eurpub/ckaa166.1238
Abstract: Severe Combined Immunodeficiency (SCID) is the most aggressive form of primary immunodeficiencies, being able to death within 2 years after birth. In the USA, the screening found that the incidence of SCID was double that… read more here.
Keywords: policy; analysis; combined immunodeficiency; curitiba brazil ... See more keywords
Neonatal Screening for Congenital Adrenal Hyperplasia in Denmark: 10 Years of Experience.
Sign Up to like & getrecommendations! Published in 2022 at "Hormone research in paediatrics"
DOI: 10.1159/000522230
Abstract: INTRODUCTION Early detection of salt-wasting congenital adrenal hyperplasia (SW-CAH) is important to reduce CAH related morbidity. However, neonatal screening has shown to have a low positive predictive value (PPV), especially among preterm newborns. Here, the… read more here.
Keywords: adrenal hyperplasia; congenital adrenal; introduction; cah ... See more keywords
Neonatal Screening and Genotype-Phenotype Correlation of 21-Hydroxylase Deficiency in the Chinese Population
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DOI: 10.3389/fgene.2020.623125
Abstract: Background: Congenital adrenal hyperplasia (CAH) is a group of autosomal recessive disorders encompassing enzyme deficiencies in the adrenal steroidogenesis pathway that leads to impaired cortisol biosynthesis. 21-hydroxylase deficiency (21-OHD) is the most common type of… read more here.
Keywords: genotype phenotype; phenotype correlation; hydroxylase deficiency; genotype ... See more keywords
The Importance of Neonatal Screening for Galactosemia
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DOI: 10.3390/nu15010010
Abstract: Galactosemia is an inborn metabolic disorder caused by a deficient activity in one of the enzymes involved in the metabolism of galactose. The first description of galactosemia in newborns dates from 1908, ever since complex… read more here.
Keywords: diagnosis; screening galactosemia; importance neonatal; galactosemia ... See more keywords