[HTML][HTML] Regulation of pyruvate metabolism and human disease

LR Gray, SC Tompkins, EB Taylor - Cellular and molecular life sciences, 2014 - Springer
Pyruvate is a keystone molecule critical for numerous aspects of eukaryotic and human
metabolism. Pyruvate is the end-product of glycolysis, is derived from additional sources in …

Control of iron deficiency anemia in low-and middle-income countries

SR Pasricha, H Drakesmith, J Black… - Blood, The Journal …, 2013 - ashpublications.org
Despite worldwide economic and scientific development, more than a quarter of the world's
population remains anemic, and about half of this burden is a result of iron deficiency …

Clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

RF Grace, P Bianchi, EJ van Beers… - Blood, The Journal …, 2018 - ashpublications.org
An international, multicenter registry was established to collect retrospective and prospective
clinical data on patients with pyruvate kinase (PK) deficiency, the most common glycolytic …

[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 …

Erythrocyte pyruvate kinase deficiency: 2015 status report

RF Grace, A Zanella, EJ Neufeld… - American journal of …, 2015 - Wiley Online Library
Over the last several decades, our understanding of the genetic variation, pathophysiology,
and complications of the hemolytic anemia associated with red cell pyruvate kinase …

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 …

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 …

Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency

P Bianchi, E Fermo, K Lezon‐Geyda… - American journal of …, 2020 - Wiley Online Library
Pyruvate kinase (PK) deficiency is a rare recessive congenital hemolytic anemia caused by
mutations in the PKLR gene. This study reports the molecular features of 257 patients …

[HTML][HTML] Molecular heterogeneity of pyruvate kinase deficiency

P Bianchi, E Fermo - Haematologica, 2020 - ncbi.nlm.nih.gov
Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated
with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an …

Pyruvate kinase deficiency: current challenges and future prospects

B Fattizzo, F Cavallaro, APML Marcello… - Journal of Blood …, 2022 - Taylor & Francis
Pyruvate kinase deficiency (PKD) is a rare autosomal recessive disease marked by chronic
hemolytic anemia of various severity and frequent complications including gallstones …