Congenital erythropoietic porphyria: Recent advances, Mol Genet Metab, 2018. ,
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria, Blood, vol.118, issue.6, pp.1443-1451, 2011. ,
The putative iron-responsive element in the human erythroid 5-aminolevulinate synthase mRNA mediates translational control, J Biol Chem, vol.268, issue.17, pp.12699-705, 1993. ,
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria, Blood, vol.126, issue.2, pp.257-261, 2015. ,
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases, Br J Dermatol, vol.167, issue.4, pp.888-900, 2012. ,
Congenital erythropoietic porphyria: identification and expression of 10 mutations in the uroporphyrinogen III synthase gene, J Clin Invest, vol.95, issue.2, pp.905-912, 1995. ,
Erythroid-Progenitor-Targeted Gene Therapy Using Bifunctional TFR1 Ligand-Peptides in Human Erythropoietic Protoporphyria, Am J Hum Genet, vol.104, issue.2, pp.341-347, 2019. ,
URL : https://hal.archives-ouvertes.fr/hal-02328937
Complete Suppression of the Symptoms of Congenital Erythropoietic Porphyria by Long-Term Treatment with High-Level Transfusions, N Engl J Med, vol.314, issue.16, pp.1029-1031, 1986. ,
Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation, Pediatr Dermatol, vol.30, issue.4, pp.484-489, 2013. ,
Efficacy and safety of iron-chelation therapy with deferoxamine, deferiprone, and deferasirox for the treatment of iron-loaded patients with non-transfusion-dependent thalassemia syndromes, Drug Des Devel Ther, 2016. ,
A proposed treatment algorithm for adults with Haemoglobin SC disease, Br J Haematol, vol.182, issue.4, pp.607-609, 2018. ,
Hemoglobin sickle cell disease complications: A clinical study of 179 cases, Haematologica, vol.97, issue.8, pp.1136-1141, 2012. ,
Congenital erythropoietic porphyria: A single-observer clinical study of 29 cases, Br J Dermatol, vol.167, issue.4, pp.901-913, 2012. ,
In ferrochelatase-deficient protoporphyria patients, ALAS2 expression is enhanced and erythrocytic protoporphyrin concentration correlates with iron availability, Blood Cells, Mol Dis, vol.54, issue.1, pp.71-77, 2015. ,
Front line tests for the investigation of suspected porphyria, J Clin Pathol, vol.54, issue.7, pp.500-507, 2001. ,