Idkowiak, Jan

The Regulation of Steroid Action by Sulfation and Desulfation

Mueller, J. W., Gilligan, L. C., Idkowiak, J., Arlt, W., & Foster, P. A. (2015) · Endocrine Reviews

Pharmacogenetics and Drug MetabolismEstrogen and related hormone effects

Cited by 419

Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Krone, N., Reisch, N., Idkowiak, J., Dhir, V., Ivison, H. E., Hughes, B. A., Rose, I. T., O'Neil, D. M., Vijzelaar, R., Smith, M. J., et al. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 163

Premature adrenarche: novel lessons from early onset androgen excess

Idkowiak, J., Lavery, G. G., Dhir, V., Barrett, T. G., Stewart, P. M., Krone, N., & Arlt, W. (2011) · European Journal of Endocrinology

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 158

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

Storbeck, K.-H., Schiffer, L., Baranowski, E. S., Chortis, V., Prete, A., Barnard, L., Gilligan, L. C., Taylor, A. E., Idkowiak, J., Arlt, W., et al. (2019) · Endocrine Reviews

Adrenal Hormones and DisordersMetabolism and Genetic Disorders

Cited by 141

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

Idkowiak, J., Randell, T., Dhir, V., Patel, P., Shackleton, C. H. L., Taylor, N. F., Krone, N., & Arlt, W. (2012) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 104

PAPSS2 deficiency causes androgen excess via impaired DHEA sulfation–in vitro and in vivo studies in a family harboring two novel PAPSS2 mutations

Oostdijk, W., Idkowiak, J., Mueller, J. W., House, P. J., Taylor, A. E., O'Reilly, M. W., Hughes, B. A., de Vries, M. C., Kant, S. G., Santen, G. W. E., et al. (2015) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 81

Monogenic disorders of adrenal steroidogenesis

Baranowski, E. S., Arlt, W., & Idkowiak, J. (2018) · Hormone Research in Paediatrics

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 79

Prenatal diagnosis of congenital adrenal hyperplasia caused by P450 oxidoreductase deficiency

Reisch, N., Idkowiak, J., Hughes, B. A., Ivison, H. E., Abdul-Rahman, O. A., Hendon, L. G., Olney, A. H., Nielsen, S., Harrison, R., Blair, E. M., et al. (2013) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 67

Pubertal Presentation in Seven Patients with Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency

Idkowiak, J., O'Riordan, S., Reisch, N., Malunowicz, E. M., Collins, F., Kerstens, M. N., Köhler, B., Graul-Neumann, L. M., Szarras-Czapnik, M., Dattani, M., et al. (2011) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 64

Novel H6PDH mutations in two girls with premature adrenarche: ‘apparent’ and ‘true’ CRD can be differentiated by urinary steroid profiling

Lavery, G. G., Idkowiak, J., Sherlock, M., Bujalska, I., Ride, J. P., Saqib, K., Hartmann, M. F., Hughes, B., Wudy, S. A., De Schepper, J., et al. (2013) · European Journal of Endocrinology

Adrenal Hormones and DisordersSexual Differentiation and Disorders

Cited by 50

Steroid sulfatase deficiency and androgen activation before and after puberty

Idkowiak, J., Taylor, A. E., Subtil, S., O'Neil, D. M., Vijzelaar, R., Dias, R. P., Amin, R., Barrett, T. G., Shackleton, C. H. L., Kirk, J. M. W., et al. (2016) · The Journal of Clinical Endocrinology & Metabolism

Sexual Differentiation and DisordersAdrenal Hormones and Disorders

Cited by 42