Results 41 to 50 of about 288,483 (243)

SOD2 deficient erythroid cells up-regulate transferrin receptor and down-regulate mitochondrial biogenesis and metabolism. [PDF]

PLoS ONE, 2011
Mice irradiated and reconstituted with hematopoietic cells lacking manganese superoxide dismutase (SOD2) show a persistent hemolytic anemia similar to human sideroblastic anemia (SA), including characteristic intra-mitochondrial iron deposition.
Florent M Martin, Xiuling Xu, Katharina von Löhneysen, Timothy J Gilmartin, Jeffrey S Friedman   +4 more
doaj   +4 more sources

Clinical and Morphological Bone Marrow Characteristics of Pearson Syndrome: About Three Consecutive Cases and Review of the Literature. [PDF]

Case Rep Pediatr
Pearson syndrome (PS) is a rare and fatal multisystem disorder caused by a mitochondrial DNA (mtDNA) deletion. Most patients develop refractory anemia in early infancy, rapidly followed by multiple complications such as failure to thrive, muscle hypotonia, pancreatic insufficiency, and renal tubulopathy. Although the definitive diagnosis is established
Degroot GN, Empain A, Dedeken L, Demulder A, Rozen L.   +4 more
europepmc   +2 more sources

X-linked sideroblastic anemia [PDF]

Definitions, 2020
X-linked sideroblastic anemia is an inherited disorder that prevents developing red blood cells (erythroblasts) from making enough hemoglobin, which is the protein that carries oxygen in the blood.
Masaki Muramatsu, Kensuke Usuki, Koji Izutsu, Yuji Yamaguchi, Seiko Iki, Kazumichi Furuyama, Masahiro Kondo, A Urabe   +7 more
semanticscholar   +2 more sources

A novel ALAS2 mutation causes congenital sideroblastic anemia [PDF]

Mediterranean Journal of Hematology and Infectious Diseases, 2023
Kun Yang
doaj   +2 more sources

MLASA-1: A rare cause of myopathy with sideroblastic anemia [PDF]

Annals of Indian Academy of Neurology, 2022
Benazer Sait, Aakash C Chidambaram, R M Dinesh Babu, Krishnamoorthy Vidhyasagar, Joshua R Xavier, Benjamin Sagayaraj   +5 more
doaj   +2 more sources

Biallelic IARS2 mutations presenting as sideroblastic anemia [PDF]

Haematologica, 2020
Giulia Barcia, Dinusha Pandithan, Benedetta Ruzzenente, Zahra Assouline, Alessandra Pennisi, Clothilde Ormieres, Claude Besmond, Charles-Joris Roux, Nathalie Boddaert, Isabelle Desguerre, David R. Thorburn, Drago Bratkovic, Arnold Munnich, Jean-Paul Bonnefont, Agnès Rötig, Julie Steffann   +15 more
doaj   +2 more sources

Congenital sideroblastic anemia in a female [PDF]

American Journal of Hematology, 2018
Barnaby Clark, Barnaby Clark, Sophie Hanina, Barbara J. Bain, D. Mark Layton   +4 more
openaire   +4 more sources

Sideroblastic Anemia in a Young Woman Being Treated for Wilson Disease

Annals of Internal Medicine: Clinical Cases, 2023
D-penicillamine and zinc are both useful in the treatment of Wilson disease. Both drugs can cause pancytopenia by the direct toxic effect on the marrow or sideroblastic anemia caused by hyperzincemia-induced hypocupremia. Although serum copper levels are
Vivien Mak, Kate Leung, Wai-lim Yiu
doaj   +1 more source

A novel and apparent de novo ALAS2 missense variant associated with congenital sideroblastic anemia. [PDF]

Front Pediatr
Cai J, Liu T, Huang Y, Chen H, Yu M, Zhang D, Huang Z.   +6 more
europepmc   +2 more sources

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources