Zobrazeno 1 - 6 of 6 pro vyhledávání: '"Rosa Enacan"'
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Akademický článek
Parenting Styles and Coping Strategies in PKU Early Detected Children
Autor: María L. Pardo Campos, Rosa Enacan, Maria G. Valle, Ana Chiesa
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Abstract Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention may influence the par
Externí odkaz: https://doaj.org/article/0ea05c98082c4abdba768d8e1d4fc717
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2
Parenting Styles and Coping Strategies in PKU Early Detected Children
Autor: Ana Chiesa, María L. Pardo Campos, Rosa Enacan, Maria G. Valle
Publikováno v: Journal of Inborn Errors of Metabolism and Screening, Volume: 9, Article number: e20200014, Published: 17 MAR 2021
Journal of Inborn Errors of Metabolism and Screening, Vol 9 (2021)
Journal of Inborn Errors of Metabolism and Screening v.9 2021
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Phenylketonuria (PKU) requires tight control to prevent neurocognitive impairment but reports show that patients may present mild cognitive defects related to higher impulsivity. We hypothesize that chronic intervention may influence the parents and
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::488a79724e5066540e07756f1804b8d5
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942021000100303&lng=en&tlng=en
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3
Pilot Neonatal Screening Program for Central Congenital Hypothyroidism: Evidence of Significant Detection
Autor: Rachel Reynaud, Maria Virginia Méndez, Debora Braslavsky, Nicolas Jullien, Ana Chiesa, Ana Keselman, Thierry Brue, Laura Gruñeiro-Papendieck, Laura Prieto, Alexandru Savenau, Rosa Enacan, Ignacio Bergadá
Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Background/Aim: Congenital hypothyroidism (CH) is a heterogeneous entity. Neonatal screening programs based on thyrotropin (TSH) determination allow primary CH diagnosis but miss central CH (CCH). CCH causes morbidity, alerts to other pituitary defic
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db0cd1fdc3480a2d25087b9c7e8b800b
https://doi.org/10.1159/000480293
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4
Phenylalanine Hydroxylase (PAH) Genotyping in PKU Argentine Patients
Autor: Norma Spécola, Mercedes Salerno, Fernando Santos-Simarro, Ana Chiesa, Rosa Enacan, Pablo Lapunzina, Laura Prieto, Mariana Nuñez Miñana, Luis Morís Fernández, Maria G. Valle, Claudia I. Fraga
Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Journal of Inborn Errors of Metabolism and Screening v.7 2019
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 7 (2019)
Phenylketonuria (PKU, OMIM 261600) is predominantly caused by mutations in the PAH gene. One hundred and three Argentine PKU patients were studied by Sanger sequencing; 101 were completely characterized (90.3% were compound heterozygotes). Fifty-four
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::12d10c671468321868c0a2d15d3518ce
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942019000100309&tlng=en
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5
Hipotiroidismo congénito transitorio por defectos bialélicos del gen DUOX2. Dos casos clinicos
Autor: Héctor M. Targovnik, Rosa Enacan, Maria Eugenia Masnata, Ana Chiesa, Patricia Papendieck, Laura Gruñeiro-Papendieck, Sofia Siffo, Fiorella Sabrina Belforte, María Cecilia Olcese, Carina M. Rivolta
Publikováno v: CONICET Digital (CONICET)
Consejo Nacional de Investigaciones Científicas y Técnicas
instacron:CONICET
Congenital hypothyroidism affects 1:2000-3000 newborns detected by neonatal screening programs. Dual oxidases, DUOX1 and 2, generate hydrogen peroxide needed for the thyroid hormone synthesis. Mutations in the DUOX2 gene have been described in transi
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd79556f3516c6785f69a86c24f386b5
https://www.sap.org.ar/docs/publicaciones/archivosarg/2017/v115n3a19.pdf
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