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 …

Red cell pyruvate kinase deficiency: molecular and clinical aspects

A Zanella, E Fermo, P Bianchi… - British journal of …, 2005 - Wiley Online Library
Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of the
glycolytic pathway causing hereditary non‐spherocytic haemolytic anaemia. The degree of …

Pyruvate kinase: current status of regulatory and functional properties

ME Muñoz, E Ponce - Comparative biochemistry and physiology Part B …, 2003 - Elsevier
Pyruvate kinase (PK) is a key enzyme for the glycolytic pathway and carbon metabolism in
general. On the basis of the relevance and enormous diverse properties of this enzyme, this …

Estimating the prevalence of pyruvate kinase deficiency from the gene frequency in the general white population

E Beutler, T Gelbart - Blood, The Journal of the American …, 2000 - ashpublications.org
Pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic
hemolytic anemia. The prevalence of this deficiency is unknown, though some estimates …

Pyruvate kinase deficiency: the genotype-phenotype association

A Zanella, E Fermo, P Bianchi, LR Chiarelli, G Valentini - Blood reviews, 2007 - Elsevier
Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of
glycolysis causing chronic non-spherocytic haemolytic anaemia. The disease is transmitted …

Red cell pyruvate kinase deficiency: from genetics to clinical manifestations

A Zanella, P Bianchi - Best Practice & Research Clinical Haematology, 2000 - Elsevier
Pyruvate kinase deficiency is the most frequent enzyme abnormality of the Embden–
Meyerhof pathway causing hereditary non-spherocytic haemolytic anaemia. The degree of …

Red blood cell PK deficiency: an update of PK-LR gene mutation database

G Canu, M De Bonis, A Minucci… - Blood Cells, Molecules …, 2016 - Elsevier
Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic
nonspherocytic hemolytic anemia (CNSHA). Clinical PK deficiency is transmitted as an …

Updates and advances in pyruvate kinase deficiency

N Luke, K Hillier, H Al-Samkari, RF Grace - Trends in molecular medicine, 2023 - cell.com
Mutations in the PKLR gene lead to pyruvate kinase (PK) deficiency, causing chronic
hemolytic anemia secondary to reduced red cell energy, which is crucial for maintenance of …

A novel 33‐Gene targeted resequencing panel provides accurate, clinical‐grade diagnosis and improves patient management for rare inherited anaemias

NBA Roy, EA Wilson, S Henderson… - British journal of …, 2016 - Wiley Online Library
Accurate diagnosis of rare inherited anaemias is challenging, requiring a series of complex
and expensive laboratory tests. Targeted next‐generation‐sequencing (NGS) has been …

Molecular basis of erythroenzymopathies associated with hereditary hemolytic anemia: tabulation of mutant enzymes

S Miwa, H Fujii - American journal of hematology, 1996 - Wiley Online Library
Molecular abnormalities of erythroenzymopathies associated with hereditary hemolytic
anemia have been determined by means of molecular biology. Pyruvate kinase (PK) …