相关参考文献
注意：仅列出部分参考文献，下载原文获取全部文献信息。Bone Marrow Transplantation in Congenital Erythropoietic Porphyria: Sustained Efficacy but Unexpected Liver Dysfunction
Caroline Besnard et al.
BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION (2020)
Iron chelation rescues hemolytic anemia and skin photosensitivity in congenital erythropoietic porphyria
Jean-Marc Blouin et al.
BLOOD (2020)
Congenital erythropoietic porphyria: Recent advances
Angelika L. Erwin et al.
MOLECULAR GENETICS AND METABOLISM (2019)
Relapse of porphyria cutanea tarda after treatment with phlebotomy or 4-aminoquinoline antimalarials: a meta-analysis
H. Salameh et al.
BRITISH JOURNAL OF DERMATOLOGY (2018)
Repurposing ciclopirox as a pharmacological chaperone in a model of congenital erythropoietic porphyria
Pedro Urquiza et al.
SCIENCE TRANSLATIONAL MEDICINE (2018)
Missense UROS mutations causing congenital erythropoietic porphyria reduce UROS homeostasis that can be rescued by proteasome inhibition
Jean-Marc Blouin et al.
HUMAN MOLECULAR GENETICS (2017)
Acute hepatic and erythropoietic porphyrias: from ALA synthases 1 and 2 to new molecular bases and treatments
Hana Manceau et al.
CURRENT OPINION IN HEMATOLOGY (2017)
Advances in understanding the pathogenesis of congenital erythropoietic porphyria
Elena Di Pierro et al.
BRITISH JOURNAL OF HAEMATOLOGY (2016)
Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria
Daniel N. Egan et al.
BLOOD (2015)
Successful Treatment of Congenital Erythropoietic Porphyria Using Matched Unrelated Hematopoietic Stem Cell Transplantation
Carmen Martinez Peinado et al.
PEDIATRIC DERMATOLOGY (2013)
Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases
R. P. Katugampola et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
A management algorithm for congenital erythropoietic porphyria derived from a study of 29 cases
R. P. Katugampola et al.
BRITISH JOURNAL OF DERMATOLOGY (2012)
ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria
Jordi To-Figueras et al.
BLOOD (2011)
Human uroporphyrinogen III synthase: NMR-based mapping of the active site
Luis Cunha et al.
PROTEINS-STRUCTURE FUNCTION AND BIOINFORMATICS (2008)
Congenital erythropoietic porphyria: dilemmas in present day management
SA Dawe et al.
CLINICAL AND EXPERIMENTAL DERMATOLOGY (2002)
分享论文
