Genetic analysis does not confirm non-classical congenital adrenal hyperplasia in more than a third of the women followed with this diagnosis

Autor: Susan M. Webb, Rosa Corcoy, Gemma Carreras, Diana Tundidor-Rengel, Juan José Espinós, Ana Chico, Silvia Martinez-Couselo, Francisco Blanco-Vaca, Valeria Alcantara-Aragon

Publikováno v: Hormones-International Journal of Endocrinology and Metabolism
r-IIB SANT PAU. Repositorio Institucional de Producción Científica del Instituto de Investigación Biomédica Sant Pau
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Non-classical congenital adrenal hyperplasia (NCCAH) due to 21-hydroxylase deficiency is one of the most frequent autosomal recessive diseases, with an estimated prevalence of 1 in 1000. It may manifest at different stages in life. In late childhood,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3f271fd9e900df6c14734c7b1b9ac853
https://doi.org/10.14310/horm.2002.1509

Cinacalcet for the management of hypercalcemia secondary to calcium-sensing receptor mutation

Autor: Jorge Ferrer, Susan M. Webb, José L. Torres Grajales, Josep Oriola, Diana Tundidor Rengel

Publikováno v: Endocrinología y Nutrición (English Edition). 60:40-41

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::4e8dcd60822f6bef31669e252b6ca0d8
https://doi.org/10.1016/j.endoen.2012.01.009