Albertine Donker
Rare Inherited Iron and Heme-related Anemias 129 3 GATA1 and CP2 elements cause congenital erythropoietic porphyria. The Journal of clinical investigation. 2001;107(6):753-762. 94. Phillips JD, Steensma DP, Pulsipher MA, Spangrude GJ, Kushner JP. Congenital erythropoietic porphyria due to a mutation in GATA1: the first trans-acting mutation causative for a human porphyria. Blood. 2007;109(6):2618-2621. 95. Katugampola RP, Badminton MN, Finlay AY, et al. Congenital erythropoietic porphyria: a single-observer clinical study of 29 cases. The British journal of dermatology. 2012;167(4):901-913. 96. Martinez Peinado C, Diaz de Heredia C, To- Figueras J, et al. Successful treatment of congenital erythropoietic porphyria using matched unrelated hematopoietic stem cell transplantation. Pediatric dermatology. 2013;30(4):484-489. 97. Piomelli S, Poh-Fitzpatrick MB, Seaman C, Skolnick LM, Berdon WE. Complete suppression of the symptoms of congenital erythropoietic porphyria by long-term treatment with high-level transfusions. The New England journal of medicine. 1986;314(16):1029-1031. 98. Desnick RJ, Astrin KH. Congenital erythropoietic porphyria: advances in pathogenesis and treatment. British journal of haematology. 2002;117(4):779-795. 99. Borry P, Goffin T, Nys H, Dierickx K. Attitudes regarding predictive genetic testing in minors: a survey of European clinical geneticists. American journal of medical genetics Part C, Seminars in medical genetics. 2008;148c(1):78-83. 100. Godard B, Hurlimann T, Letendre M, Egalite N. Guidelines for disclosing genetic information to family members: from development to use. Familial cancer. 2006;5(1):103-116. 101. Kautz L, Jung G, Valore EV, Rivella S, Nemeth E, Ganz T. Identification of erythroferrone as an erythroid regulator of iron metabolism. Nature genetics. 2014;46(7):678-684.
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