Results 121 to 130 of about 5,388 (203)

Decompensation of cardiorespiratory function and emergence of anemia during pregnancy in a case of mitochondrial myopathy, lactic acidosis, and sideroblastic anemia 2 with compound heterozygous YARS2 pathogenic variants. [PDF]

Am J Med Genet A, 2022
Rudaks LI, Watson E, Oboudiyat C, Kumar KR, Sullivan P, Cowley MJ, Davis RL, Sue CM.   +7 more
europepmc   +1 more source

Prognostic Factors for Sideroblastic Anemia with B-cell Immunodeficiency, Periodic Fevers, and Developmental Delay Due to TRNT1 Gene Mutations: A Case Report and Systematic Review. [PDF]

J Clin Immunol
Su TH, Lee NC, Wang LC, Chiang BL, Yu HH.   +4 more
europepmc   +1 more source

TRNT1 missense mutations define an autoinflammatory disease characterized by recurrent fever, severe anemia, and b-cell immunodeficiency [PDF]

, 2014

core   +1 more source

A Case of Mitochondrial Myopathy, Lactic Acidosis and Sideroblastic Anemia (MLASA Syndrome) and Long QT Interval in a 10-Year-Old Saudi Child. [PDF]

Saudi J Med Med Sci
Abbas AA, Monagel DA, Althubaiti SJ.
europepmc   +1 more source

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

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

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

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

[New mutation of congenital sideroblastic anemia: a case report and literature review]. [PDF]

Zhonghua Xue Ye Xue Za Zhi, 2021
Han X, Wen Q, Liu X, Wan K, Yan HJ, Zhang C, Zhang X.   +6 more
europepmc   +1 more source

Microcytic anaemias in childhood and iron-refractory iron deficiency anaemia [PDF]

, 2017
Bhatia, Delbini, Donker, Donker, Fineberg, Girelli, Goswami, Hentze, Hershko, Johnson, Le, Meynard, Nai, Rausa, Scientific Advisory Committee on Nutrition   +14 more
core   +2 more sources