Results 41 to 50 of about 324,192 (243)

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

Iron–sulfur clusters: from metals through mitochondria biogenesis to disease [PDF]

, 2018
Iron–sulfur clusters are ubiquitous inorganic co-factors that contribute to a wide range of cell pathways including the maintenance of DNA integrity, regulation of gene expression and protein translation, energy production, and antiviral response ...
Cardenas-Rodriguez, Mauricio, Chatzi, Afroditi, Tokatlidis, Kostas   +2 more
core   +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

TRNT1 deficiency: clinical, biochemical and molecular genetic features [PDF]

, 2016
BACKGROUND: TRNT1 (CCA-adding transfer RNA nucleotidyl transferase) enzyme deficiency is a new metabolic disease caused by defective post-transcriptional modification of mitochondrial and cytosolic transfer RNAs (tRNAs).
Chong, WK, Clayton, PT, Fassone, E, Footitt, E, Kleta, R, Mills, PB, Minczuk, M, Niazi, R, Pearce, S, Plagnol, V, Powell, CA, Rahman, S, Saldanha, JW, Taanman, JW, Wedatilake, Y   +14 more
core   +2 more sources

Clinical and genetic aspects of defects in the mitochondrial iron-sulfur cluster synthesis pathway [PDF]

, 2018
Iron-sulfur clusters are evolutionarily conserved biological structures which play an important role as cofactor for multiple enzymes in eukaryotic cells.
Van Coster, Rudy, Vanlander, Arnaud
core   +2 more sources

Differential diagnosis of iron deficiency [PDF]

, 2010
Iron deficiency is considered to be the commonest hematological pathology in humans. Thus, the essential steps in an adequate approach of iron deficiency include: the proper identification of its causes and the differentiation between iron deficiency and
Figueiredo, Maria Stella, Vicari, Perla
core   +1 more source

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

Mutations in the mitochondrial cysteinyl-tRNA synthase gene, CARS2, lead to a severe epileptic encephalopathy and complex movement disorder [PDF]

, 2015
Background: Mitochondrial disease is often suspected in cases of severe epileptic encephalopathy especially when a complex movement disorder, liver involvement and progressive developmental regression are present.
Collins, Abigail E, Coughlin, Curtis R, II, Creadon-Swindell, Geralyn, Friederich, Marisa W, Geiger, Elizabeth A, Minczuk, Michal, Powell, Christopher A, Scharer, Gunter H, Shaikh, Tamim H, Swanson, Michael A, Van Coster, Rudy, Van Hove, Johan LK, Vanlander, Arnaud, Yu, Hung-Chun   +13 more
core   +2 more sources

Evaluating the Patient-Reported Outcomes Measurement Information System scales in acute intermittent porphyria. [PDF]

, 2020
PurposeAcute intermittent porphyria (AIP) is a rare inborn error of heme biosynthesis characterized by life-threatening acute attacks. Few studies have assessed quality of life (QoL) in AIP and those that have had small sample sizes and used tools that ...
Anderson, Karl E, Balwani, Manisha, Bissell, D Montgomery, Bonkovsky, Herbert L, Desnick, Robert J, Erwin, Angelika, Keel, Siobán, Levy, Cynthia, McGuire, Brendan, Montgomery, Guy H, Naik, Hetanshi, Overbey, Jessica R, Phillips, John D, Wang, Bruce, Winkel, Gary   +14 more
core   +1 more source

When Ring Sideroblasts on Bone Marrow Smears Are Inconsistent with the Diagnosis of Myelodysplastic Neoplasms

Diagnostics, 2022
Ring sideroblasts are commonly seen in myelodysplastic neoplasms and are a key condition for identifying distinct entities of myelodysplastic neoplasms according to the WHO classification.
Sandrine Girard, Franck Genevieve, Emmanuelle Rault, Odile Fenneteau, Jean-François Lesesve   +4 more
doaj   +1 more source