Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Maria Sonia Baquedano"'
Autor:
Maria Sonia, Baquedano, Gabriela, Guercio, Mariana, Costanzo, Roxana, Marino, Marco A, Rivarola, Alicia, Belgorosky
Publikováno v:
Vitamins and hormones. 108
3βHSD2 enzyme is crucial for adrenal and gonad steroid biosynthesis. In enzyme deficiency states, due to recessive loss-of-function HSD3B2 mutations, steroid flux is altered and clinical manifestations result. Deficiency of 3βHSD2 activity in the a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5105dabc65dcd6c3cbdd108f634831da
https://pubmed.ncbi.nlm.nih.gov/30029738
https://pubmed.ncbi.nlm.nih.gov/30029738
Autor:
Marta, Ciaccio, Mariana, Costanzo, Gabriela, Guercio, Valeria, De Dona, Roxana, Marino, Pablo C, Ramirez, Jessica, Galeano, Diana Monica, Warman, Esperanza, Berensztein, Nora, Saraco, Maria Sonia, Baquedano, Eduardo, Chaler, Mercedes, Maceiras, Juan Manuel, Lazzatti, Marco A, Rivarola, Alicia, Belgorosky
Publikováno v:
Hormone research in paediatrics. 78(2)
In humans, steroidogenic factor 1 (NR5A1/SF-1) mutations have been reported to cause gonadal dysgenesis, with or without adrenal failure, in both 46,XY and 46,XX individuals. We have previously reported extreme within-family variability in affected 4
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::5d2d7ac2afba1a2a7285292c9690743f
https://pubmed.ncbi.nlm.nih.gov/22907560
https://pubmed.ncbi.nlm.nih.gov/22907560
Autor:
Maria Sonia Baquedano, Gabriela Guercio, Daniela Napoli, Mariana Costanzo, Esperanza Berensztein, Roxana Marino, Marcela Bailez, Elisa Vaiani, Nora Saraco, Marco A Rivarola, Alicia Belgorosky
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::964d14ba0bfc15654d4350a21132eaf1
https://doi.org/10.1210/endo-meetings.2011.part3.p14.p2-728
https://doi.org/10.1210/endo-meetings.2011.part3.p14.p2-728
