Results 31 to 40 of about 298,625 (226)

A Case Report on Pearson Syndrome With Emphasis on Genetic Screening in Patients Presenting With Sideroblastic Anemia and Lactic Acidosis

Cureus, 2023
Pearson marrow-pancreas syndrome is a rare multisystem mitochondrial disease that is a result of defective oxidative phosphorylation caused by mitochondrial DNA mutations.
Celeste Shoeleh, Umberto M Donato, Andrew Galligan, J. Vitko   +3 more
semanticscholar   +1 more source

Three-generation female cohort with macrocytic anemia and iron overload. [PDF]

Am J Hematol
American Journal of Hematology, Volume 100, Issue 1, Page 133-138, January 2025.
Boucher AA, Dayton VJ, Pratt AR, Nassar NN, Elgammal Y, Kalfa TA.   +5 more
europepmc   +2 more sources

A novel mutation in NDUFB11 unveils a new clinical phenotype associated with lactic acidosis and sideroblastic anemia [PDF]

, 2017
NDUFB11, a component of mitochondrial complex I, is a relatively small integral membrane protein, belonging to the 'supernumerary' group of subunits, but proved to be absolutely essential for the assembly of an active complex I.
Bertini, Enrico, Bianchi, Marzia, Carrozzo, Rosalba, Christodoulou, John, Di Nottia, Michela, Diodato, Daria, Dionisi Vico, Carlo, Francisci, Silvia, Gelmetti, Vania, Guo, Yiran, Lucarelli, Barbarella, Martinelli, Diego, Montanari, Arianna, Niceta, Marcello, Piemonte, Fiorella, Riley, Lisa, Rizza, Teresa, Sorrentino, Francesco, Tartaglia, Marco, Torraco, Alessandra, Valente, Enza Maria, Verrigni, Daniela   +21 more
core   +2 more sources

The phenotypic spectrum of germline YARS2 variants: from isolated sideroblastic anemia to mitochondrial myopathy, lactic acidosis and sideroblastic anemia 2

Haematologica, 2018
YARS2 variants have previously been described in patients with myopathy, lactic acidosis and sideroblastic anemia 2 (MLASA2). YARS2 encodes the mitochondrial tyrosyl-tRNA synthetase, which is responsible for conjugating tyrosine to its cognate mt-tRNA ...
Lisa G. Riley, Matthew M. Heeney, Joëlle Rudinger-Thirion, Magali Frugier, Dean R. Campagna, Ronghao Zhou, Gregory A. Hale, Lee M. Hilliard, Joel A. Kaplan, Janet L. Kwiatkowski, Colin A. Sieff, David P. Steensma, Alexander J. Rennings, Annet Simons, Nicolaas Schaap, Richard J. Roodenburg, Tjitske Kleefstra, Leonor Arenillas, Josep Fita-Torró, Rasha Ahmed, Miguel Abboud, Elie Bechara, Roula Farah, Rienk Y. J. Tamminga, Sylvia S. Bottomley, Mayka Sanchez, Gerwin Huls, Dorine W. Swinkels, John Christodoulou, Mark D. Fleming   +29 more
doaj   +1 more source

Causes and Pathophysiology of Acquired Sideroblastic Anemia

Genes, 2022
The sideroblastic anemias are a heterogeneous group of inherited and acquired disorders characterized by anemia and the presence of ring sideroblasts in the bone marrow.
J. J. Rodríguez-Sevilla, X. Calvo, L. Arenillas   +2 more
semanticscholar   +1 more source

Preleukemia: hematological disorders prior to onset of leukemia [PDF]

, 1975
Published data on Japanese leukemia patients with a preleukemic hematological disorder were assessed. The reexamined cases were from the "Japona Centra Revuo Medicina" reported during the period from 1952 to 1971.
Hiraki, Kiyoshi, Kitajima, Koichi, Mikochi, Hiroshi, Nakanishi, Toshio, Sakato, Junya, Takahashi, Isao   +5 more
core   +1 more source

ATP-Binding Cassette Transporter of Clinical Significance: Sideroblastic Anemia [PDF]

J Pers Med
The ATP-binding cassette (ABC) transporters are a vast group of 48 membrane proteins, some of which are of notable physiological and clinical importance.
Ogunbileje J, Harris N, Wynn T, Kashif R, Stover B, Osa-Andrews B.   +5 more
europepmc   +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

American Journal of Medical Genetics. Part A, 2022
Myopathy, lactic acidosis, and sideroblastic anemia 2 (MLASA2) is an autosomal recessive mitochondrial disorder caused by pathogenic variants in YARS2.
L. Rudaks, Eloise C. Watson, Carly Oboudiyat, K. Kumar, Patricia Sullivan, M. Cowley, R. Davis, C. Sue   +7 more
semanticscholar   +1 more source

Pyridoxine Refractory Sideroblastic Anemia: Diagnosis and Misdiagnosis

Clinical Pediatric Hematology-Oncology, 2022
We report the case of a 7-year-old girl who was originally diagnosed at the age of 6 months with transfusion-dependent red cell aplasia based on a combination of severe anemia, reticulocytopenia and bone marrow findings. Since early infancy due to severe
Muhammad Matloob Alam, Abdulrhman Alathaibi, Ruwayd Adel Attar, Muhammad Kashif, Hamdan Saeed Al-Ghamdi, Sultan Abdulaziz Alharthi, Abdulmohsen Bokhary, Muteb Althomali   +7 more
doaj   +1 more source

A distinct mitochondrial myopathy, lactic acidosis and sideroblastic anemia (MLASA) phenotype associates with YARS2 mutations [PDF]

, 2013
Nuclear-encoded disorders of mitochondrial translation are clinically and genetically heterogeneous. Genetic causes include defects of mitochondrial aminoacyl-tRNA synthetases, and factors required for initiation, elongation and termination of protein ...
Cleary, MA, Lindley, KJ, Rahman, S, Shahni, R, Sibson, KR, Wedatilake, Y   +5 more
core   +1 more source