Congenital Erythropoietic Porphyria Latest Advances

Congenital erythropoietic porphyria (Günther disease): A rare case of early-onset photosensitivity and erythrodontia in an infant.

Journal: JAAD case reports

Published: August 09, 2026

Homozygous variegate porphyria: Two cases misdiagnosed as erythropoietic protoporphyria.

Journal: Molecular genetics and metabolism reports

Published: May 07, 2026

Red lines and green lights: Gene therapy for inherited erythroid disorders beyond the haemoglobinopathies.

Journal: British journal of haematology

Published: March 27, 2026

Understanding the Clinical Spectrum of the Cutaneous and Acute Hepatic Porphyrias.

Journal: American journal of clinical dermatology

Published: March 05, 2026

Congenital Erythropoietic Porphyria with Persistent Severe Biochemical Abnormalities and a Non-Mutilating Clinical Course: A Case Report.

Journal: Reports (MDPI)

Published: December 23, 2025

Hematopoietic stem cell transplantation for erythropoietic porphyria-induced acute liver failure: a case report and literature review.

Journal: Clinics and research in hepatology and gastroenterology

Published: November 19, 2025

Novel PPOX Mutation With Ocular Involvement in Variegate Porphyria: Case Report and Literature Review.

Journal: Cornea

Published: October 29, 2025

Two siblings with congenital erythropoietic porphyria in one family: case report and literature review

Journal: Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics

Published: October 22, 2025

Congenital Erythropoietic Porphyria in a Neonate: Utility of Rapid Whole Genome Sequencing - A Case Report.

Journal: Neonatology

Published: October 07, 2025

Hematopoietic stem cell transplantation in pediatric congenital erythropoietic porphyria: a French retrospective multicenter registry study on behalf of the Francophone Society of Bone Marrow Transplantation and Cellular Therapy (SFGM-TC).

Journal: Bone marrow transplantation

Published: September 24, 2025