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).

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

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

Porphyrias: Pathophysiology and clinical management recommendations for hepatologists.

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

Late recurrence of congenital erythropoietic porphyria symptoms after initial remission post-bone marrow transplant.

Congenital Erythropoietic Porphyria.

Identification of a novel nonsense mutation and a recurrent missense mutation in UROS gene in a patient with congenital erythropoietic porphyria.

Congenital erythropoietic porphyria: the overlooked inherited disorder.

Needle-like red cell inclusions in congenital erythropoietic porphyria.

Congenital Erythropoietic Porphyria: A Case of Hepatic Failure and Angioedema Following Ferrous Sulfate Supplementation.

The role of allogeneic stem cell transplantation in severe erythropoietic protoporphyria in adults and young adults: timing and modalities.

Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation.

Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation in an adult: A case report.

Congenital Erythropoietic Porphyria: A Rare Inherited Disorder.

Causal effect of porphyria biomarkers on alcohol-related hepatocellular carcinoma through Mendelian Randomization.

Congenital erythropoietic porphyria five years observation with standard treatment: a case report.

Severe Perinatal Presentations of Günther's Disease: Series of 20 Cases and Perspectives.

Congenital erythropoietic porphyria presenting with recurrent epistaxis: a case report.

Update on the Porphyrias.

Twelve-year follow-up of bone marrow transplantation in congenital erythropoietic porphyria: lessons learned from a challenging case.

Ocular protection in congenital erythropoietic porphyria: A potential role for gaming glasses.

Bullous lesions following phototherapy in a newborn.

Porphyrias: Uncommon disorders masquerading as common childhood diseases.

Lagophthalmos-induced corneal perforation in a patient with congenital erythropoietic porphyria.

Acquired erythropoietic uroporphyria associated with clonal cytopenia of undetermined significance.

Very Early Diagnosis and Management of Congenital Erythropoietic Porphyria.

Novel mutation in the UROS gene causing congenital erythropoietic porphyria in an elderly Japanese female.

Late-Onset Congenital Erythropoietic Porphyria.

Iron, Heme Synthesis and Erythropoietic Porphyrias: A Complex Interplay.

An Atypical Case of Congenital Erythropoietic Porphyria.

Hematopoietic stem cell transplant for erythropoietic porphyrias in pediatric patients.

Perinatal onset of severe congenital erythropoietic porphyria.

Bone marrow erythroid cell inclusions reveal congenital erythropoietic porphyria.

Improving the Pharmacological Properties of Ciclopirox for Its Use in Congenital Erythropoietic Porphyria.

Hypertrichosis and erythrodontia in congenital erythropoietic porphyria.

Acitretin mitigates uroporphyrin-induced bone defects in congenital erythropoietic porphyria models.

Congenital erythropoietic porphyria: A case series of a rare uroporphyrinogen III synthase gene mutation in Nepalese patients.

Case Report: A Possible Case of Congenital Erythropoietic Porphyria in a Gir Calf: A Clinical, Pathological, and Molecular Approach.

Identification of novel UROS mutations in a patient with congenital erythropoietic porphyria and efficient treatment by phlebotomy.

Metabolic Landscape of the Mouse Liver by Quantitative 31 P Nuclear Magnetic Resonance Analysis of the Phosphorome.

A simple Rx for congenital erythropoietic porphyria.

Use of polarized dermoscopy in the evaluation of congenital erythropoietic porphyria.

Mutation-Specific Guide RNA for Compound Heterozygous Porphyria On-target Scarless Correction by CRISPR/Cas9 in Stem Cells.

Congenital erythropoietic porphyria (Gunther disease): a case report.

Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria.

Mild iron deficiency does not ameliorate the phenotype of a murine erythropoietic protoporphyria model.

Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria.

Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction.

Genetic background influences hepcidin response to iron imbalance in a mouse model of hemolytic anemia (Congenital erythropoietic porphyria).

Ocular manifestations in patient with congenital erythropoietic porphyria.

Heme biosynthesis and the porphyrias.

Congenital Erythropoietic Porphyria: A Rare Case of Photosensitivity with Hemolytic Anaemia and Mental Retardation.

Clinical Guide and Update on Porphyrias.

CRISPR-Cas9 genome editing induces megabase-scale chromosomal truncations.

Murine models of the human porphyrias: Contributions toward understanding disease pathogenesis and the development of new therapies.

[The cutaneous porphyrias].

Congenital erythropoietic porphyria with erythrodontia: A case report.

Congenital erythropoietic porphyria: Recent advances.

Recent advances on porphyria genetics: Inheritance, penetrance & molecular heterogeneity, including new modifying/causative genes.

Congenital erythropoietic porphyria and erythropoietic protoporphyria: Identification of 7 uroporphyrinogen III synthase and 20 ferrochelatase novel mutations.

Anaesthetic concerns in the patients with congenital erythropoietic porphyria for ocular surgery.

Scleritis in congenital erythropoietic porphyria - infective or inflammatory?

Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria.

Brain perfusion defects by SPET/CT and neurostat semi-quantitative analysis in two patients with congenital erythropoietic porphyria.

[Congenital erythropoietic porphyria: case report and management recommendations].

Neonatal hemolytic anemia does not always indicate thalassemia: a case report.

Acquired erythropoietic uroporphyria secondary to myelodysplastic syndrome with chromosome 3 alterations: a case report.

Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition.

Congenital erythropoietic porphyria (Gunther disease) - long-term follow up of a case and review.

Hemolytic anemia repressed hepcidin level without hepatocyte iron overload: lesson from Günther disease model.

Congenital erythropoietic porphyria: mild presentation with late onset associated with a mutation in the UROS gene promoter sequence.

A Case of Congenital Erythropoietic Porphyria without Haemolysis.

Congenital Erythropoietic Porphyria with Undescended Testis.

Cutaneous Porphyrias: Causes, Symptoms, Treatments and the Danish Incidence 1989-2013.

Late-onset cutaneous porphyria in a patient heterozygous for a uroporphyrinogen III synthase gene mutation.

Advances in understanding the pathogenesis of congenital erythropoietic porphyria.

A Rare Case of Puberty Onset Congenital Erythropoietic Porphyria with Ophthalmological Manifestations.

Scleral necrosis in congenital erythropoietic porphyria: A case report and review of the literature.

[Congenital erythropoietic porphyria : An update].

Congenital Erythropoietic Porphyria With Calcific Constrictive Pericarditis: A Case Report and Brief Review of Literature.

Successful hematopoietic stem cell transplantation in a child with congenital erythropoietic porphyria due to a mutation in GATA-1.

Porphyria Diagnostics-Part 1: A Brief Overview of the Porphyrias.

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria.