Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Noemi Buzzalino"'
Isolated p.H62L Mutation in the CYP21A2 Gene in a Simple Virilizing 21-Hydroxylase Deficient Patient
Publikováno v:
Case Reports in Genetics, Vol 2013 (2013)
Congenital adrenal hyperplasia due to 21-hydroxylase deficiency accounts for 90%–95% of cases. This autosomal recessive disorder has a broad spectrum of clinical forms, ranging from severe or classical, which includes the salt-wasting and simple vi
Externí odkaz:
https://doaj.org/article/f220b5a296584481b5fab7d2a1074d25
Autor:
Titania, Pasqualini, Guillermo, Alonso, Rosangela, Tomasini, Ana Maria, Galich, Noemi, Buzzalino, Cecilia, Fernandez, Carolina, Minutolo, Liliana, Alba, Liliana, Dain
Publikováno v:
Medicina. 67(3)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is a disorder which can adopt three clinical expressions: two classical forms -salt-wasting (SW), with residual enzymatic activity (EA)or = 1% and simple virilizing (SV), with EA 1
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::79aeac41a13b75a799040c98020f4159
https://pubmed.ncbi.nlm.nih.gov/17628913
https://pubmed.ncbi.nlm.nih.gov/17628913
Autor:
Melisa Taboas, Luciana Gómez Acuña, María Florencia Scaia, Carlos D Bruque, Noemí Buzzalino, Mirta Stivel, Nora R Ceballos, Liliana Dain
Publikováno v:
PLoS ONE, Vol 9, Iss 3, p e92181 (2014)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism and accounts for 90-95% of CAH cases. In the present work, we analyzed the functional consequence of four novel previously reported
Externí odkaz:
https://doaj.org/article/fa8262b8a374471c84d07d8b1e0e1efd
Autor:
Carolina Minutolo, Alejandro D Nadra, Cecilia Fernández, Melisa Taboas, Noemí Buzzalino, Bárbara Casali, Susana Belli, Eduardo H Charreau, Liliana Alba, Liliana Dain
Publikováno v:
PLoS ONE, Vol 6, Iss 1, p e15899 (2011)
Congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency is the most frequent inborn error of metabolism, and accounts for 90-95% of CAH cases. The affected enzyme, P450C21, is encoded by the CYP21A2 gene, located together with a 98% nuc
Externí odkaz:
https://doaj.org/article/0b3ff7a736854c4088db0fd43b6b4937