Listar por autor "Kopacek, Cristiane"
Mostrando ítems 1-9 de 9
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Acurácia da ultrassonografia com doppler de artérias uterinas para a definição do estágio puberal em meninas
(2021) [Resumen publicado en evento] -
Characterization of mutations causing CYP21A2 deficiency in brazilian and portuguese populations
(2022) [Artículo de periódico]Deficiency of 21-hydroxylase enzyme (CYP21A2) represents 90% of cases in congenital adrenal hyperplasia (CAH), an autosomal recessive disease caused by defects in cortisol biosynthesis. Computational prediction and functional ... -
Clinical and molecular profile of newborns with confirmed or suspicious congenital adrenal hyperplasia detected after a public screening program implementation
(2019) [Artículo de periódico]Objective To describe the results obtained in a neonatal screening program after its implementation and to assess the clinical and molecular profiles of confirmed and suspicious congenital adrenal hyperplasia cases. Methods ... -
Epidemiological profile of congenital hypothyroidism at a southern Brazilian state
(2023) [Artículo de periódico]Objective: To determine the incidence of congenital hypothyroidism (CH) over a 10-year period at the Reference Service in Neonatal Screening of the state of Rio Grande do Sul (RSNS-RS). Subjects and methods: Historical ... -
Hiperplasia adrenal congênita: resultados após 24 meses de triagem neonatal pública no Rio Grande do Sul
(2016) [Resumen publicado en evento] -
Neonatal screening for congenital adrenal hyperplasia in southern Brazil : a population based study with 108,409 infants
(2017) [Artículo de periódico]Background: Congenital adrenal hyperplasia (CAH) is an autosomal recessive disorder associated with inborn errors of steroid metabolism. 21-hydroxylase enzyme deficiency occurs in 90 to 95% of all cases of CAH, with ... -
Newest diabetes related technologies for pediatric type 1 diabetes and its impact on routine care : a narrative synthesis of the literature
(2021) [Artículo de periódico]Purpose of Review This review aims to address the actual state of the most advanced diabetes devices, as follows: continuous subcutaneous insulin infusions (CSII), continuous glucose monitoring systems (CGM), hybrid-closed ... -
Triagem neonatal expandida por espectrometria de massas em tandem no município de Porto Alegre : resultados das 3 primeiras semanas do estudo-piloto
(2021) [Resumen publicado en evento] -
Triagem neonatal pública para hiperplasia adrenal congênita no Rio Grande do Sul : da implantação à caracterização clínico-laboratorial
(2016) [Tesis]A hiperplasia adrenal congênita (HAC) é um grupo de doenças hereditárias causadas por uma deficiência em uma das enzimas necessárias para a síntese de cortisol no cortex adrenal. Mais de 95% de todos os casos de HAC são ...
