[PDF][PDF] Iron overload disorders

CC Hsu, NH Senussi, KY Fertrin… - Hepatology …, 2022 - Wiley Online Library
Iron overload disorders represent a variety of conditions that lead to increased total body
iron stores and resultant end‐organ damage. An elevated ferritin and transferrin‐iron …

Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias

H Al-Samkari, EJ van Beers - Therapeutic advances in …, 2021 - journals.sagepub.com
Mitapivat (AG-348) is a novel, first-in-class oral small molecule allosteric activator of the
pyruvate kinase enzyme. Mitapivat has been shown to significantly upregulate both wild …

Mitapivat versus placebo for pyruvate kinase deficiency

H Al-Samkari, F Galactéros, A Glenthøj… - … England Journal of …, 2022 - Mass Medical Soc
Background Pyruvate kinase deficiency is a rare, hereditary, chronic condition that is
associated with hemolytic anemia. In a phase 2 study, mitapivat, an oral, first-in-class …

[HTML][HTML] Safety and efficacy of mitapivat in pyruvate kinase deficiency

RF Grace, C Rose, DM Layton… - … England Journal of …, 2019 - Mass Medical Soc
Background Pyruvate kinase deficiency is caused by mutations in PKLR and leads to
congenital hemolytic anemia. Mitapivat is an oral, small-molecule allosteric activator of …

Management of pyruvate kinase deficiency in children and adults

RF Grace, W Barcellini - Blood, The Journal of the American …, 2020 - ashpublications.org
Pyruvate kinase deficiency (PKD) is an autosomal-recessive enzyme defect of the glycolytic
pathway that causes congenital nonspherocytic hemolytic anemia. The diagnosis and …

Mitapivat in adult patients with pyruvate kinase deficiency receiving regular transfusions (ACTIVATE-T): a multicentre, open-label, single-arm, phase 3 trial

A Glenthøj, EJ van Beers, H Al-Samkari… - The Lancet …, 2022 - thelancet.com
Background Mitapivat, an oral activator of pyruvate kinase (PK) in red blood cells (RBCs),
has shown significant improvements in haemoglobin and haemolysis among patients with …

How we manage patients with pyruvate kinase deficiency

RF Grace, D Mark Layton… - British journal of …, 2019 - Wiley Online Library
Novel therapies in development have brought a new focus on pyruvate kinase deficiency
(PKD), the most common congenital haemolytic anaemia due to a glycolytic enzyme …

AG-348 (mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and adenosine triphosphate levels over a …

MAE Rab, BA Van Oirschot, PA Kosinski… - …, 2020 - pmc.ncbi.nlm.nih.gov
Pyruvate kinase (PK) deficiency is a rare hereditary disorder affecting red blood cell (RBC)
glycolysis, causing changes in metabolism including a deficiency in adenosine triphosphate …

Erythrocytes as a preferential target of oxidative stress in blood

J Fujii, T Homma, S Kobayashi, P Warang… - Free Radical …, 2021 - Taylor & Francis
Red blood cells (RBC) are specifically differentiated to transport oxygen and carbon dioxide
in the blood and they lack most organelles, including mitochondria. The autoxidation of …

Addressing the diagnostic gaps in pyruvate kinase deficiency: consensus recommendations on the diagnosis of pyruvate kinase deficiency

P Bianchi, E Fermo, B Glader, H Kanno… - American journal of …, 2019 - Wiley Online Library
Pyruvate kinase deficiency (PKD) is the most common enzyme defect of glycolysis and an
important cause of hereditary, nonspherocytic hemolytic anemia. The disease has a …