Cytochrome P450 Oxidoreductase Deficiency Latest Advances

Antley-Bixler syndrome: a case report on virtual planning for monobloc distraction osteogenesis and a surgical intervention narrative review.

Journal: Journal of stomatology, oral and maxillofacial surgery

Published: January 26, 2025

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

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.

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.

Journal: Journal of clinical medicine

Published: July 30, 2022

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

Journal: Molecules (Basel, Switzerland)

Published: May 31, 2022

A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

Journal: American journal of human genetics

Published: December 10, 2021

The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.

Journal: Congenital anomalies

Published: September 14, 2021

Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

Journal: Translational pediatrics

Published: August 23, 2021

Steroidogenic electron-transfer factors and their diseases.

Journal: Annals of pediatric endocrinology & metabolism

Published: August 07, 2021

Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.

Journal: Congenital anomalies

Published: February 01, 2021

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.

Journal: Stem cell research

Published: January 24, 2021

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Antley-Bixler syndrome: a case report on virtual planning for monobloc distraction osteogenesis and a surgical intervention narrative review.

Antley-Bixler syndrome: a case report on virtual planning for monobloc distraction osteogenesis and a surgical intervention narrative review.

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.

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.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

Congenital adrenal hyperplasia due to P450 oxidoreductase deficiency.

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.

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.

A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

A spectrum of recessiveness among Mendelian disease variants in UK Biobank.

The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.

The first adult case of cytochrome P450 oxidoreductase deficiency with sufficient semen volume and sperm concentration.

Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

Antley-Bixler syndrome arising from compound heterozygotes in the P450 oxidoreductase gene: a case report.

Steroidogenic electron-transfer factors and their diseases.

Steroidogenic electron-transfer factors and their diseases.

Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.

Two cases of cytochrome P450 oxidoreductase deficiency with severe scoliosis and surgery requirement.

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.

Establishment of an induced pluripotent stem cell line from a Antley-Bixler Syndrome (ABS) patient with the homozygote mutation p.R457H (c.1370G>A) in POR gene.