A novel syndrome of congenital sideroblastic anemia, B-cell immunodeficiency, periodic fevers, and developmental delay (SIFD)

Congenital sideroblastic anemias (CSAs) are a heterogeneous group of inherited disorders identified by pathological erythroid precursors with perinuclear mitochondrial iron deposition in bone marrow. An international collaborative group of physicians and laboratory scientists collated clinical infor...

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Detalhes bibliográficos
Main Authors: Wiseman, Daniel H., May, Alison, Jolles, Stephen, Connor, Philip, Powell, Colin, Heeney, Matthew M., Giardina, Patricia J., Klaassen, Robert J., Chakraborty, Pranesh, Geraghty, Michael T., Major-Cook, Nathalie, Kannengiesser, Caroline, Thuret, Isabelle, Thompson, Alexis A., Marques, Laura, Hughes, Stephen, Bonney, Denise K., Bottomley, Sylvia S., Fleming, Mark D., Wynn, Robert F.
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2013
Assuntos:
Red Cells, Iron, and Erythropoiesis
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC3761334/
https://ncbi.nlm.nih.gov/pubmed/23553769
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2012-08-439083
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