Mostrando 4 resultados de: 4
Filtros aplicados
Publisher
Journal of Clinical Endocrinology and Metabolism(1)
Journal of Steroid Biochemistry and Molecular Biology(1)
Molecular and Cellular Endocrinology(1)
Steroids(1)
Área temáticas
Enfermedades(3)
Farmacología y terapéutica(2)
Fisiología humana(1)
Ginecología, obstetricia, pediatría, geriatría(1)
Medicina y salud(1)
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ODS 10: Reducción de las desigualdades(4)
ODS 3: Salud y bienestar(4)
ODS 17: Alianzas para lograr los objetivos(1)
ODS 4: Educación de calidad(1)
ODS 5: Igualdad de género(1)
Origen
scopus(4)
Analysis of novel heterozygous mutations in the CYP11B2 gene causing congenital aldosterone synthase deficiency and literature review
ArticleAbstract: Aldosterone synthase deficiency (ASD) is a rare autosomal recessive disorder characterized by severePalabras claves:Aldosterone synthesis, CYP11B2 mutations, Hypoaldosteronism, next-generation sequencingAutores:Chen S., Gong F., Jiang J., Liu J., Lu L., Lu Z., Miao H., Pan H., Richard J. Auchus, Yu Z., Zhu H.Fuentes:scopusFunctional characterization of the G162R and D216H genetic variants of human CYP17A1
ArticleAbstract: Cytochrome P450 17A1 (CYP17A1) is a dual-function enzyme catalyzing reactions necessary for cortisolPalabras claves:CYP17A1, Cytochrome p450, Proteasome, steroidogenesis, UbiquitinationAutores:Capper C.P., Hollenberg P.F., Johnson M.D., Larios J.M., Liu J., McIntosh L.R., Osawa Y., Rae J.M., Richard J. AuchusFuentes:scopusGerm cell neoplasia in situ complicating 17β-hydroxysteroid dehydrogenase type 3 deficiency
ReviewAbstract: 17β-hydroxysteroid dehydrogenase type 3 (17βHSD3)deficiency is an autosomal recessive disorder of maPalabras claves:17β-hydroxysteroid dehydrogenase type 3 deficiency, 46XY disorder of sex development, Mutations, Puberty, Testosterone, VirilizationAutores:Eugster E.A., Folsom L.J., Hjaige M., Liu J., Richard J. AuchusFuentes:scopusSalt-Losing 21-Hydroxylase Deficiency Caused by Double Homozygosity for Two "mild" Mutations
ArticleAbstract: Context: Congenital adrenal hyperplasia due to 21-hydroxylase deficiency presents with different sevPalabras claves:21-hydroxylase, Congenital adrenal hyperplasia, Genetics, salt-wastingAutores:Ilany J., Levy-Lahad E., Liu J., Reznik-Wolf H., Richard J. Auchus, Welsch C.Fuentes:scopus