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pro vyhledávání: '"c.292 5G>A"'
Autor:
Andrés Umaña-Calderón, María José Acuña-Navas, Danny Alvarado, Mildred Jiménez, Fred Cavallo-Aita
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 27, Iss , Pp 100728- (2021)
Steroid 21-hydroxylase deficiency accounts for 95% of congenital adrenal hyperplasia (CAH) cases. Newborn screening has allowed for early detection of the disease, and currently, molecular analysis can identify the genotypes of these patients. Phenot
Externí odkaz:
https://doaj.org/article/03aa07d373dd45db9c885f06b88ee6ec
Akademický článek
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Autor:
Ezquieta, Begoña, Santomé, Luis, Barrio, Raquel, Barrionuevo, Jose L., López-Siguero, Juan P., Oliver, Antonio, Ramírez, Joaquín, Rodríguez, Ildefonso, Muñoz-Pacheco, Rafael
Publikováno v:
Prenatal Diagnosis; Aug2010, Vol. 30 Issue 8, p758-763, 6p
Autor:
Therrell, Bradford L., Padilla, Carmencita D., Borrajo, Gustavo J. C., Khneisser, Issam, Schielen, Peter C. J. I., Knight-Madden, Jennifer, Malherbe, Helen L., Kase, Marika
Publikováno v:
International Journal of Neonatal Screening (IJNS); Jun2024, Vol. 10 Issue 2, p38, 184p
Autor:
Arriba, María, Ezquieta, Begoña
Publikováno v:
Frontiers in Endocrinology; 3/29/2022, Vol. 13, p1-10, 10p
SAT-LB049 Identification of a Rare Mutation in Congenital Adrenal Hyperplasia Patients in Costa Rica
Autor:
Danny Alvarado Romero, Mildred Jiménez Hernández, María José Acuña Navas, Fred Cavallo Aita, Andrés Umaña Calderón
Publikováno v:
Journal of the Endocrine Society
Abstract: Congenital adrenal hyperplasia (CAH) is a group of enzymatic defects in cortisol biosynthesis. Steroid 21-hydroxylase deficiency accounts for greater than 90% of cases. Newborn screening has allowed for early detection of cases and currentl
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2b54107c201d54fbe7f58fe92cf45a15
http://europepmc.org/articles/PMC6551931
http://europepmc.org/articles/PMC6551931
Publikováno v:
Frontiers in Endocrinology; 1/24/2022, Vol. 12, p1-9, 9p
Autor:
Luis Santomé, Begoña Ezquieta, Ildefonso Rodríguez, Joaquín Ramírez, Jose L. Barrionuevo, Juan Pedro López-Siguero, Antonio Oliver, Rafael Muñoz-Pacheco, Raquel Barrio
Publikováno v:
Prenatal Diagnosis. 30:758-763
Objective Couples at risk of severe congenital adrenal hyperplasia (CAH) may be offered prenatal treatment or preimplantation diagnosis. However, proper genetic counselling requires the accurate identification of apparently ‘mild alleles’ in part
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0868a1e4b025a8c3017770ac9f178428
https://doi.org/10.1002/pd.2537
https://doi.org/10.1002/pd.2537