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21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
(Walter De Gruyter Gmbh, 2008-05-01)
21-Hydroxylase deficiency (21OHD) is the commonest form of congenital adrenal hyperplasia, while 11 beta OHD represents 5% of cases. Although both result from mutations in distinct genes, cases of 'apparent' combined 210HD ...
21-hydroxylase deficiency transiently mimicking combined 21- and 11 beta-hydroxylase deficiency
(Walter De Gruyter GmbhBerlinAlemanha, 2008)
Bases Moleculares da Hiperplasia Adrenal CongênitaMolecular Bases of Congenital Adrenal Hyperplasia
(Sociedade Brasileira de Endocrinologia e Metabologia, 2002)
Glucose-6-phosphate dehydrogenase deficiency: Enzimatic and molecular analysis in a Bogotá population
Objective: To determine the frequency of G-6PD and molecular analysis for identification of A+, A- and Mediterranean in healthy persons in Bogotá. Methods: Quantitative spectrophotometric assays for enzyme activity of G-6PD ...
NnSR1, a class III non-S-RNase constitutively expressed in styles,isinducedin roots and stems under phosphate deficiency in Nicotiana alata
(Oxford University Press, 2013-11)
Background and Aims: Non-S-ribonucleases (non-S-RNases) are class III T2 RNases constitutively expressed in styles of species with S-RNase-based self-incompatibility. So far, no function has been attributed to these RNases. ...
Inhibition of CYP21A2 enzyme activity caused by novel missense mutations identified in Brazilian and Scandinavian patients
(Endocrine SocChevy ChaseEUA, 2008)
Deficiencia de Glucosa 6 Fosfato Deshidrogenasa: análisis enzimático y molecular en una población de Bogotá.
Objective: To determine the frequency of G-6PD and molecular analysis for identification of A+, A- and Mediterranean in healthy persons in Bogotá. Methods: Quantitative spectrophotometric assays for enzyme activity of G-6PD ...
Deficiencia de glucosa 6 fosfato deshidrogenasa : análisis enzimático y molecular en una población de Bogotá.
(2012-12-06)
Objetivo: Determinar qué tan frecuente es la deficiencia de glucosa 6 fosfato deshidrogenasa (G6PD) y realizar análisis
molecular para identificar las variantes A+, A- y mediterránea en una población de residentes en ...
Caracterização bioquímica e genética da deficiência de biotinidase no Programa de Triagem Neonatal de Minas Gerais: estudo prospectivo de cinco anos
(Universidade Federal de Minas GeraisBrasilMEDICINA - FACULDADE DE MEDICINAPrograma de Pós-Graduação em Ciências da Saúde - Saúde da Criança e do AdolescenteUFMG, 2019-11-27)
Biotinidase deficiency (BD) is an autosomal recessive metabolic disorder caused by mutations in the BTD gene, located on chromosome 3. Diverse phenotypic expression is due to variable deficiency of biotinidase enzyme ...
Deficiencia de glucosa-6-fosfato deshidrogenasa: análisis enzimático y molecular en una población de Bogotá
Objective: To determine the frequency of G-6PD and molecular analysis for identification of A+, A- and Mediterranean in healthy persons in Bogota.Methods: Quantitative spectrophotometric assays for enzyme activity of G-6PD ...