ALLMedicine™ Congenital Erythropoietic Porphyria Center
Research & Reviews 87 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7685213
Blood Abkowitz JL
Nov 19th, 2020 - A simple Rx for congenital erythropoietic porphyria.|2020|Abkowitz JL,|
https://doi.org/10.1182/blood.2020006037
Blood Blouin JM, Ged C et. al.
Jul 17th, 2020 - Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of nonphysiological porphyrin isomer I metabolites. Clinical features are heterogene...
https://doi.org/10.1002/ajh.25743
American Journal of Hematology REFERENCES; Schmidt PJ, Hollowell ML et. al.
Jan 28th, 2020 - Reduced ferrochelatase activity in erythropoietic protoporphyria (EPP) causes the accumulation of protoporphyrin IX (PPIX) leading to acute cutaneous photosensitivity and liver injury. Many EPP patients also have a mild hypochromic, microcytic ane...
https://doi.org/10.3324/haematol.2019.228270
Haematologica Mirmiran A, Poli A et. al.
Jan 10th, 2020 - Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria|2020|Mirmiran A,Poli A,Ged C,Schmitt C,Lefebvre T,|
https://doi.org/10.1016/j.bbmt.2019.12.005
Biology of Blood and Marrow Transplantation : Journal of ... Besnard C, Schmitt C et. al.
Dec 17th, 2019 - Congenital erythropoietic porphyria (CEP) is a rare disease characterized by erosive photosensitivity and chronic hemolysis due to a defect of the enzyme uroporphyrinogen-III-synthase (UROS). To date, hematopoietic stem cell transplantation (HSCT)...
Clinicaltrials.gov 87 results
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7685213
Blood Abkowitz JL
Nov 19th, 2020 - A simple Rx for congenital erythropoietic porphyria.|2020|Abkowitz JL,|
https://doi.org/10.1182/blood.2020006037
Blood Blouin JM, Ged C et. al.
Jul 17th, 2020 - Congenital erythropoietic porphyria (CEP) is an inborn error of heme synthesis resulting from uroporphyrinogen III synthase (UROS) deficiency and the accumulation of nonphysiological porphyrin isomer I metabolites. Clinical features are heterogene...
https://doi.org/10.1002/ajh.25743
American Journal of Hematology REFERENCES; Schmidt PJ, Hollowell ML et. al.
Jan 28th, 2020 - Reduced ferrochelatase activity in erythropoietic protoporphyria (EPP) causes the accumulation of protoporphyrin IX (PPIX) leading to acute cutaneous photosensitivity and liver injury. Many EPP patients also have a mild hypochromic, microcytic ane...
https://doi.org/10.3324/haematol.2019.228270
Haematologica Mirmiran A, Poli A et. al.
Jan 10th, 2020 - Phlebotomy as an efficient long-term treatment of congenital erythropoietic porphyria|2020|Mirmiran A,Poli A,Ged C,Schmitt C,Lefebvre T,|
https://doi.org/10.1016/j.bbmt.2019.12.005
Biology of Blood and Marrow Transplantation : Journal of ... Besnard C, Schmitt C et. al.
Dec 17th, 2019 - Congenital erythropoietic porphyria (CEP) is a rare disease characterized by erosive photosensitivity and chronic hemolysis due to a defect of the enzyme uroporphyrinogen-III-synthase (UROS). To date, hematopoietic stem cell transplantation (HSCT)...
News 1 results
https://www.mdedge.com/internalmedicine/article/101477/rare-diseases/drug-induced-iron-deficiency-decreased-congenital
Katie Wagner Lennon
Jul 24th, 2015 - Using deferasirox to induce iron deficiency may improve the symptoms of congenital erythropoietic porphyria. The findings come from a study of a woman of Alaskan Native descent who was diagnosed as an infant with CEP and had compound heterozygosit.
