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Last Updated: 01/07/2026

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Found 108 publications

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

A novel POR G88S mutation causes severe PORD and establishes a critical pharmacogenomic risk profile.

Journal: The Journal of clinical endocrinology and metabolism
Published: September 10, 2025

Correction: Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Correction: Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: August 08, 2025

Asthenozoospermia in a 51-year-old patient with cytochrome P450 oxidoreductase deficiency.

Asthenozoospermia in a 51-year-old patient with cytochrome P450 oxidoreductase deficiency.

Journal: Internal medicine journal
Published: June 04, 2025

CYP51A1 in health and disease: from sterol metabolism to regulated cell death.

CYP51A1 in health and disease: from sterol metabolism to regulated cell death.

Journal: Cell death discovery
Published: May 01, 2025

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.

Measurement of twenty-one serum steroid profiles by UPLC-MS/MS for the diagnosis and monitoring of congenital adrenal hyperplasia.

Journal: Journal of mass spectrometry and advances in the clinical lab
Published: March 26, 2025

The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: report of three cases with severe disorder.

The distinctive P450 oxidoreductase (PORD) urinary steroid metabolome in the first week of life: report of three cases with severe disorder.

Journal: The Journal of steroid biochemistry and molecular biology
Published: December 01, 2024

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: November 14, 2024

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Clinical Characteristics and Molecular Aetiology of Cytochrome P450 Oxidoreductase Deficiency Diagnosed in 46,XX Patients.

Journal: Reproductive sciences (Thousand Oaks, Calif.)
Published: November 14, 2024

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Diagnostic challenges and management advances in cytochrome P450 oxidoreductase deficiency, a rare form of congenital adrenal hyperplasia, with 46, XX karyotype.

Journal: Frontiers in endocrinology
Published: May 21, 2023

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Journal: Frontiers in endocrinology
Published: August 16, 2022

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.

Genetic Testing for a Patient with Suspected 3 Beta-Hydroxysteroid Dehydrogenase Deficiency: A Case of Unreported Genetic Variants.

Journal: Journal of clinical medicine
Published: July 30, 2022

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.

In Silico Analysis of PORD Mutations on the 3D Structure of P450 Oxidoreductase.

Journal: Molecules (Basel, Switzerland)
Published: May 31, 2022
Showing 1-12 of 108

Last Updated: 01/07/2026