about
A missense mutation in the human cytochrome b5 gene causes 46,XY disorder of sex development due to true isolated 17,20 lyase deficiencyThe Regulation of Steroid Action by Sulfation and DesulfationRole of ALADIN in human adrenocortical cells for oxidative stress response and steroidogenesisPAPSS2 deficiency causes androgen excess via impaired DHEA sulfation--in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations.The natural course of infantile spinal muscular atrophy with respiratory distress type 1 (SMARD1).Hypoblast controls mesoderm generation and axial patterning in the gastrulating rabbit embryo.Concomitant mutations in the P450 oxidoreductase and androgen receptor genes presenting with 46,XY disordered sex development and androgenization at adrenarche.Pubertal presentation in seven patients with congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.Polarity in the rabbit embryo.Genotype-phenotype analysis in congenital adrenal hyperplasia due to P450 oxidoreductase deficiencyNovel H6PDH mutations in two girls with premature adrenarche: 'apparent' and 'true' CRD can be differentiated by urinary steroid profiling.Evidence for Increased 5α-Reductase Activity During Early Childhood in Daughters of Women With Polycystic Ovary SyndromeSteroid Sulfatase Deficiency and Androgen Activation Before and After Puberty.Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency.Premature adrenarche: novel lessons from early onset androgen excess.Causes, patterns and severity of androgen excess in 1205 consecutively recruited women.Human DHEA sulfation requires direct interaction between PAPS synthase 2 and DHEA sulfotransferase SULT2A1.Monogenic Disorders of Adrenal SteroidogenesisCauses, patterns and severity of androgen excess in 487 consecutively recruited pre- and post-pubertal childrenSteroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism
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description
onderzoeker
@nl
researcher ORCID ID = 0000-0001-9181-3995
@en
name
Jan Idkowiak
@ast
Jan Idkowiak
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Jan Idkowiak
@es
Jan Idkowiak
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type
label
Jan Idkowiak
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Jan Idkowiak
@en
Jan Idkowiak
@es
Jan Idkowiak
@nl
prefLabel
Jan Idkowiak
@ast
Jan Idkowiak
@en
Jan Idkowiak
@es
Jan Idkowiak
@nl
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0000-0001-9181-3995
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