Concepedia

Jan Idkowiak

JI

20

Publications

1.2K

Citations

19

H-Index

2004

Active since

Affiliations

University of Birmingham(Current)

Birmingham Women’s and Children’s NHS Foundation Trust

National Health Service

University Hospitals Birmingham NHS Foundation Trust

King's College Hospital

Jan Idkowiak is an author at University of Birmingham specializing in medicine, natural sciences, and redox biology.

ORCID

Top concepts

Publications per year

2004–2024

20

Publications

20

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

Nils Krone, Nicole Reisch, Jan Idkowiak et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 163 citations · Full text

Steroid Metabolome Analysis in Disorders of Adrenal Steroid Biosynthesis and Metabolism

Karl‐Heinz Storbeck, Lina Schiffer, Elizabeth S. Baranowski et al. · Endocrine Reviews · 2019 · 131 citations · Full text

A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to True Isolated 17,20 Lyase Deficiency

Jan Idkowiak, Tabitha Randell, Vivek Dhir et al. · The Journal of Clinical Endocrinology & Metabolism · 2011 · 99 citations · Full text

PAPSS2 Deficiency Causes Androgen Excess via Impaired DHEA Sulfation—In Vitro and in Vivo Studies in a Family Harboring Two Novel PAPSS2 Mutations

Wilma Oostdijk, Jan Idkowiak, Jonathan Wolf Mueller et al. · The Journal of Clinical Endocrinology & Metabolism · 2015 · 78 citations · Full text

The Natural Course of Infantile Spinal Muscular Atrophy With Respiratory Distress Type 1 (SMARD1)

Maria Eckart, Ulf‐Peter Guenther, Jan Idkowiak et al. · PEDIATRICS · 2011 · 73 citations

Rows per page

1–5 of 20