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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)
17-hydroxyprogesterone deficiency as a cause of sexual infantilism and arterial hypertension: Laboratory and molecular diagnosis - a case report
(Parthenon Publishing GroupLancasterInglaterra, 2007)
Distinctive profile of the 17-hydroxylase and 17,20-lyase activities revealed by urinary steroid metabolomes of patients with CYP17 deficiency
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-12-01)
OBJECTIVES: (1) Characterize serum (S) and urinary (U) steroid metabolites in complete CYP17 deficiency (cCYP17D); (2) analyze the relative 17α-hydroxylase (17OH) and 17,20-lyase (17,20L) activities in vivo; and (3) ...
Combined 17α-hydroxylase/17,20-lyase deficiency due to p.R96W mutation in the CYP17 gene in a Brazilian patient
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010-11-01)
Congenital adrenal hyperplasia (CAH) resulting from 17α-hydroxylase/17,20-lyase deficiency is a rare autosomal recessive disease and the second most common form of CAH in Brazil. We describe the case of a Brazilian patient ...
Bases Moleculares da Hiperplasia Adrenal CongênitaMolecular Bases of Congenital Adrenal Hyperplasia
(Sociedade Brasileira de Endocrinologia e Metabologia, 2002)
Six new cases confirm the clinical molecular profile of complete combined 17α-hydroxylase/ 17,20-lyase deficiency in BrazilSeis novos casos confirmam o perfil clínico molecular de deficiência combinada de 17 alfa-hidroxilase/17,20-liase no Brasil
(Sociedade Brasileira de Endocrinologia e Metabologia, 2010)
Combined 17 alpha-hydroxylase/17,20-lyase deficiency due to a homozygous 25 BP duplication (NT 4157-4181) at exon 5 in the CYP17 resulting in a premature stop codon predicted by molecular modeling
(Sociedade Brasileira de Endocrinologia e Metabologia, 2008)
Combined 17alpha-hydroxylase/17,20-lyase deficiency is a rare, autosomal recessive form of congenital adrenal hyperplasia characterized by the coexistence of hypertension, caused by the hyperproduction of mineralocorticoid ...