Results 121 to 130 of about 210,000 (180)

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

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

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

Sideroblastic anemia Secondary to anti-tubercular Therapy in a Patient with Acute Promyelocytic Leukemia. [PDF]

Indian J Hematol Blood Transfus
Swain RN, Arora M, Singh C, Sreedharanunni S.   +3 more
europepmc   +1 more source

P2 Receptor Antagonists Rescue Defective Heme Content in an In Vitro SLC25A38-Associated Congenital Sideroblastic Anemia Cell Model. [PDF]

Int J Mol Sci
Santoro A, De Santis S, Palmieri F, Vozza A, Agrimi G, Andolfo I, Russo R, Palazzo A, Storlazzi CT, Ferrucci A, Jun YW, Kool ET, Fiermonte G, Iolascon A, Paradies E, Marobbio CMT, Palmieri L.   +16 more
europepmc   +1 more source

Apparent recessive inheritance of sideroblastic anemia type 2 due to uniparental isodisomy at the SLC25A38 locus. [PDF]

Haematologica, 2020
Andolfo I, Martone S, Ribersani M, Bianchi S, Manna F, Genesio R, Gambale A, Pignataro P, Testi AM, Iolascon A, Russo R.   +10 more
europepmc   +1 more source

Isolated Zinc Deficiency Causing Severe Microcytosis and Sideroblastic Anemia

Turkish Journal of Hematology, 2014
Gupta Shweta, Jain Prantesh, Sukhal Shashvat   +2 more
doaj   +1 more source

Mutations in the iron-sulfur cluster biogenesis protein HSCB cause congenital sideroblastic anemia. [PDF]

J Clin Invest, 2020
Crispin A, Guo C, Chen C, Campagna DR, Schmidt PJ, Lichtenstein D, Cao C, Sendamarai AK, Hildick-Smith GJ, Huston NC, Boudreaux J, Bottomley SS, Heeney MM, Paw BH, Fleming MD, Ducamp S.   +15 more
europepmc   +1 more source

A Myopathy, Lactic Acidosis, Sideroblastic Anemia (MLASA) Case Due to a Novel PUS1 Mutation

Turkish Journal of Hematology, 2017
Çiğdem Seher Kasapkara, Leyla Tümer, Nadia Zanetti, Fatih Ezgü, Eleonora Lamantea, Massimo Zeviani   +5 more
doaj   +1 more source

[Siderocytes, sideroblasts and sideroblastic anemia].

Lijecnicki vjesnik, 1968
openaire   +1 more source