Results 111 to 120 of about 3,469 (181)

Sideroblastic anemia [PDF]

, 2020
openaire   +2 more sources

Expanding the Phenotype of DNA Ligase 1 Deficiency: First Report of Macrocytic Sideroblastic Anemia. [PDF]

Am J Hematol
Jiang D, Sampino EV, Rosenlind K, Campagna DR, DiTroia S, Fleming MD, Keel SB.   +6 more
europepmc   +1 more source

Case Report: Expanding Clinical, Immunological and Genetic Findings in Sideroblastic Anemia With Immunodeficiency, Fevers and Development Delay (SIFD) Syndrome. [PDF]

Front Immunol, 2021
Mendonca LO, Prado AI, Costa IMC, Bandeira M, Dyer R, Barros SF, Khöler KF, Fonseca LAM, Kalil J, Castro FM, Toledo-Barros MAM.   +10 more
europepmc   +1 more source

Congenital sideroblastic anemia in a female [PDF]

American Journal of Hematology, 2018
Sophie, Hanina, Barbara J, Bain, Barnaby, Clark, D Mark, Layton   +3 more
openaire   +2 more sources

SLC25A38 congenital sideroblastic anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature. [PDF]

Hum Mutat, 2021
Heeney MM, Berhe S, Campagna DR, Oved JH, Kurre P, Shaw PJ, Teo J, Shanap MA, Hassab HM, Glader BE, Shah S, Yoshimi A, Ameri A, Antin JH, Boudreaux J, Briones M, Dickerson KE, Fernandez CV, Farah R, Hasle H, Keel SB, Olson TS, Powers JM, Rose MJ, Shimamura A, Bottomley SS, Fleming MD.   +26 more
europepmc   +1 more source

Defining the Role of Hem25 in Mitochondrial Function: Implications for Congenital Sideroblastic Anemia

, 2015
Congenital sideroblastic anemia (CSA) is a hematological disease caused by mutations in genes that result in a defect in heme/hemoglobin biosynthesis. Mutations in SLC25A38 cause CSA.
Dufay, Jesica N.
core  

Highly efficient gene editing and single cell analysis of hematopoietic stem/progenitor cells from X-linked sideroblastic anemia patients. [PDF]

Signal Transduct Target Ther, 2021
Fang R, Zhang J, Yang H, Shi J, Zeng H, Zhu X, Wei D, Yuan P, Cheng T, Cheng T, Zhang Y.   +10 more
europepmc   +1 more source

Danazol in Idiopathic Sideroblastic Anemia [PDF]

Acta Haematologica, 2009
A, Avilés, M E, Rubio
openaire   +2 more sources

Inter-laboratory survey of erythrocyte free protoporphyrin quantification - announcement of a pilot study [PDF]

, 2008
Stauch, Thomas, Vogeser, Michael, Mueller, Wilhelm   +2 more
core   +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   +1 more source