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17-hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis - a case report
(Parthenon Publishing GroupLancasterInglaterra, 2007)
Six new cases confirm the clinical molecular profile of complete combined 17 alpha-hydroxylase/17,20-lyase deficiency in Brazil
(Sbem-soc Brasil Endocrinologia & MetabologiaRio De Janeiro, RjBrasil, 2010)
21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
(Walter De Gruyter GmbhBerlinAlemanha, 2008)
The common p450 oxidoreductase variant A503V is not a modifier gene for 21-hydroxylase deficiency
(ENDOCRINE SOC, 2008)
Context: 21-hydroxylase deficiency (21OHD) is a common genetic disorder caused by mutations in the CYP21A2 gene, which encodes the adrenal 21-hydroxylase, microsomal P450c21. CYP21A2 gene mutations generally correlate well ...
Bases Moleculares da Hiperplasia Adrenal CongênitaMolecular Bases of Congenital Adrenal Hyperplasia
(Sociedade Brasileira de Endocrinologia e Metabologia, 2002)
Extraadrenal 21-Hydroxylation by CYP2C19 and CYP3A4: Effect on 21-Hydroxylase Deficiency
(ENDOCRINE SOC, 2009)
Context: 21-Hydroxylase deficiency (21OHD) is caused by CYP21A2 gene mutations disrupting the adrenal 21-hydroxylase, P450c21. CYP21A2 mutations generally correlate well with the 21OHD phenotype, but some children with ...