Results 21 to 30 of about 6,166 (240)

Congenital sideroblastic anemia associated with B cell immunodeficiency, periodic fevers, and developmental delay: A case report and review of mucocutaneous features [PDF]

SAGE Open Medical Case Reports, 2019
This is a 40-year-old woman with sideroblastic anemia with B cell immunodeficiency, periodic fevers, and developmental delay syndrome, who has genital and extragenital lichen sclerosus on the abdomen and the upper back that have become erythematous and ...
Abdulhadi Jfri, Therese El-Helou, Kevin A. Watters, Annie Bélisle, Ivan V. Litvinov, Elena Netchiporouk   +5 more
doaj   +2 more sources

Reduced‐toxicity allogeneic hematopoietic stem cell transplantation in congenital sideroblastic anemia [PDF]

Clinical Case Reports, 2018
Key Clinical Message The case of an infant girl with severe congenital sideroblastic anemia associated with a novel molecular defect in mitochondrial transporter SLC25A38 is presented.
Min Hee Kim, Sanjay Shah, Sylvia S. Bottomley, Niketa C. Shah   +3 more
doaj   +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

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   +2 more sources

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   +2 more sources

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   +3 more sources

A Case Report of Inflammatory Myopathy and Sideroblastic Anemia

Majallah-i Dānishgāh-i ’Ulūm-i Pizishkī-i Shahīd Ṣadūqī Yazd, 2007
Mitochondrial myopathy, lactic acidosis, and siderobastic anemia (MLA SA) syndrome is one of the newly reported mitochondrial diseases, seven cases of which have been reported. We report a child with inflammatory myopathy, sideroblastic anemia and lactic
F Binesh, M Mortazavi Zadeh, R Fallah
doaj   +1 more source

Peripheral Blood and Bone Marrow Findings in Chronic Alcoholics with Special Reference to Acquired Sideroblastic Anemia. [PDF]

Indian J Hematol Blood Transfus, 2020
Mangla G, Garg N, Bansal D, Kotru M, Sikka M.   +4 more
europepmc   +3 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   +3 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