Results 81 to 90 of about 511,787 (144)

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

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   +1 more source

Sideroblastic anemia: functional study of two novel missense mutations in ALAS2.

, 2016
X-linked sideroblastic anemia (XLSA) is a disorder characterized by decreased heme synthesis and mitochondrial iron overload with ringed sideroblasts in bone marrow.
de la Iglesia Iñigo, Silvia, María‐Isabel Moreno‐Carralero, Manuel Méndez, Morán-Jiménez, María-José, Fernández-Jiménez, María-Cristina, Silvia de la Iglesia Iñigo, Marta Morado‐Arias, Moreno-Carralero, María-Isabel, María‐Cristina Fernández‐Jiménez, María‐José Morán‐Jiménez, Méndez, Manuel, Morado-Arias, Marta   +11 more
core   +1 more source

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

Mutations in the SLC25A38 gene are responsible for the second most common form of congenital sideroblastic anemia (CSA), a severe condition for which no effective treatment exists.
Marobbio, Carlo Marya, Gennaro Agrimi, Eric T. Kool, Ferrucci, Arianna, Ferdinando Palmieri, Russo, Roberta, Vozza, Angelo, Eleonora Paradies, Antonella Santoro, Yong Woong Jun, De Santis, Silvia, Marobbio, Carlo Marya Thomas, Achille Iolascon, Palazzo, Antonio, Fiermonte, Giuseppe, Luigi Palmieri, Silvia De Santis, Arianna Ferrucci, Clelia Tiziana Storlazzi, Antonio Palazzo, Carlo Marya Thomas Marobbio, Kool, Eric T, Iolascon, Achille, Andolfo, Immacolata, Paradies, Eleonora, Jun, Yong Woong, Roberta Russo, Santoro, Antonella, Agrimi, Gennaro, Immacolata Andolfo, Giuseppe Fiermonte, Palmieri, Luigi, Angelo Vozza, Storlazzi, Clelia Tiziana, Palmieri, Ferdinando, Carlo Marya Thomas Marobbio and Luigi Palmieri   +35 more
core   +1 more source

Sideroblastic anemia: molecular analysis of the ALAS2 gene in a series of 29 probands and functional studies of 10 missense mutations. [PDF]

, 2011
X-linked Sideroblastic Anemia (XLSA) is the most common genetic form of sideroblastic anemia, a heterogeneous group of disorders characterized by iron deposits in the mitochondria of erythroid precursors.
Deybach, Jean-Charles, Kannengiesser, Caroline, Christiane Vermylen, Bernard Grandchamp, Sarah Ducamp, Guichard, Jean François, Grandchamp, Bernard, Talbi, Neila, Carole Beaumont, Caroline Kannengiesser, Neila Talbi, Ducamp, Sarah, Garçon, Loïc, Hermann Heimpel, Mansuy, Ludovic, Gérard Tertian, Thomas Matthes, Heimpel, Hermann, Agnès Guerci-Bresler, Ludovic Mansuy, Dochir, Joaquim, Guichard, Jean-François, Hélène A. Poirel, Jean François Guichard, Guerci-Bresler, Agnès, Loïc Garçon, Fanny Fouyssac, Hervé Puy, Leroux, Geneviève, Geneviève Leroux, Robert Girot, Fouyssac, Fanny, Mohamed Touati, Poirel, Hélène Antoine, Girot, Robert, Touati, Mohamed, Poirel, Hélène A, Tertian, Gérard, Beaumont, Carole, Joaquim Dochir, Jean-Charles Deybach, Puy, Hervé, Vermylen, Christiane, Poirel, Hélène, Matthes, Thomas   +44 more
core   +1 more source

Iron loading in congenital dyserythropoietic anaemias and congenital sideroblastic anaemias.

, 1983
The relationship between body iron status, degree of anaemia, erythroid expansion, age and sex has been studied in eight patients with congenital dyserythropoietic anaemia (CDA) and two patients with congenital sideroblastic anaemia, who had received no ...
Palestra P, CAZZOLA, MARIO, Bergamaschi G, Polino G, Barosi G, Dezza L, Ramella S, Spriano P, Ascari E.   +8 more
core   +1 more source

Congenital sideroblastic anemia treated as thalassemia major.

Mymensingh medical journal : MMJ, 2011
Sideroblastic anemia is a rare cause of microcytic hypochromic anemia. In Bangladesh, most common causes of microcytic anemia are iron deficiency anemia, anemia of chronic diseases and thalassemia. Serum ferritin is usually done to differentiate them. If serum ferritin is low, the diagnosis of iron deficiency is entertained.
R K, Chowdhury, M Z, Miah, M, Morshed
openaire   +1 more source

Understanding the role of mtHsp70 in regulating mitochondrial homeostasis: revealing its significance in Congenital Sideroblastic Anemia progression

, 2022
Mitochondria are ubiquitous organelles placed at the nexus of several metabolic and signaling pathways essential for cell survival. Therefore, maintaining a healthy and functional organelle becomes paramount for the cell.
Vishwanathan, Vinaya
core  

Update of the sideroflexin (SLC56) gene family

Human Genomics
The human sideroflexin (SFXN) gene family, also classified as solute carrier family 56 (SLC56), encodes a group of five mitochondrial transmembrane proteins (SFXN1–SFXN5) involved in key aspects of mitochondrial metabolism, cellular homeostasis, and ...
Angeliki I. Katsafadou, Daniel W. Nebert, Sergey A. Krupenko, David C. Thompson, Vasilis Vasiliou   +4 more
doaj   +1 more source

Molecular defects of erythroid 5-aminolevulinate synthase in X-linked sideroblastic anemia

, 1995
The erythroid-specific isozyme of 5-aminolevulinate synthase (ALAS2), the first and ratelimiting enzyme of heme biosynthesis, is expressed concomitantly with the differentiation and maturation of the erythroid cell in order to accommodate generation of ...
Cox, T., Bishop, D., May, B., Bottomley, S., Cotter, P.   +4 more
core   +1 more source

Poster Sessions

HemaSphere, Volume 10, Issue S1, June 2026.
wiley   +1 more source