Lista de obras -

A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio

artículo científico publicado en 2013

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

artículo científico publicado en 2012

Alternative pathway androgen biosynthesis and human fetal female virilization

artículo científico publicado en 2019

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

artículo científico publicado en 2010

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

artículo científico publicado en 2004

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

artículo científico publicado en 2007

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

artículo científico publicado en 2016

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

artículo científico publicado en 2010

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

artículo científico publicado en 2011

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

artículo científico publicado en 2019

Increased central adiposity and decreased subcutaneous adipose tissue 11β-hydroxysteroid dehydrogenase type 1 are associated with deterioration in glucose tolerance-A longitudinal cohort study

artículo científico publicado en 2019

Mitotane Therapy in Adrenocortical Cancer Induces CYP3A4 and Inhibits 5α-Reductase, Explaining the Need for Personalized Glucocorticoid and Androgen Replacement

scientific article published on 16 November 2012

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

artículo científico publicado en 2003

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

artículo científico publicado en 2013

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

artículo científico publicado en 2010

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

artículo científico publicado en 2020

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

scientific article published on 01 December 2019

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

artículo científico publicado en 2016

Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency

artículo científico publicado en 2008

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

artículo científico publicado en 2017

Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors

artículo científico publicado en 2011

Urine steroid metabolomics for the differential diagnosis of adrenal incidentalomas in the EURINE-ACT study: a prospective test validation study

artículo científico publicado en 2020

Lista de obras de

A SULT2A1 genetic variant identified by GWAS as associated with low serum DHEAS does not impact on the actual DHEA/DHEAS ratio

A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiency

Alternative pathway androgen biosynthesis and human fetal female virilization

Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche

Congenital adrenal hyperplasia caused by mutant P450 oxidoreductase and human androgen synthesis: analytical study

Differential Inhibition of CYP17A1 and CYP21A2 Activities by the P450 Oxidoreductase Mutant A287P

Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary Syndrome

Gas chromatography/mass spectrometry (GC/MS) remains a pre-eminent discovery tool in clinical steroid investigations even in the era of fast liquid chromatography tandem mass spectrometry (LC/MS/MS).

Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Human steroid biosynthesis, metabolism and excretion are differentially reflected by serum and urine steroid metabolomes: A comprehensive review

Increased central adiposity and decreased subcutaneous adipose tissue 11β-hydroxysteroid dehydrogenase type 1 are associated with deterioration in glucose tolerance-A longitudinal cohort study

Mitotane Therapy in Adrenocortical Cancer Induces CYP3A4 and Inhibits 5α-Reductase, Explaining the Need for Personalized Glucocorticoid and Androgen Replacement

Mutations in the genes encoding 11beta-hydroxysteroid dehydrogenase type 1 and hexose-6-phosphate dehydrogenase interact to cause cortisone reductase deficiency

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency

Reply to Flück et al.: Alternative androgen pathway biosynthesis drives fetal female virilization in P450 oxidoreductase deficiency

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

Steroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.

Steroid biomarkers and genetic studies reveal inactivating mutations in hexose-6-phosphate dehydrogenase in patients with cortisone reductase deficiency

Steroid metabolome analysis reveals prevalent glucocorticoid excess in primary aldosteronism

Urine steroid metabolomics as a biomarker tool for detecting malignancy in adrenal tumors

Urine steroid metabolomics for the differential diagnosis of adrenal incidentalomas in the EURINE-ACT study: a prospective test validation study