Results 11 to 20 of about 638 (159)

Activation of pyruvate kinase as therapeutic option for rare hemolytic anemias:Shedding new light on an old enzyme [PDF]

, 2023
Novel developments in therapies for various hereditary hemolytic anemias reflect the pivotal role of pyruvate kinase (PK), a key enzyme of glycolysis, in red blood cell (RBC) health.
Bartels, Marije, de Wilde, Jonathan R.A., Glenthøj, Andreas, Kuo, Kevin H.M., Rab, Minke A.E., van Beers, Eduard J., van Dijk, Myrthe J., van Wijk, Richard   +7 more
core   +4 more sources

Glucose phosphate isomerase deficiency demasked by whole-genome sequencing: a case report. [PDF]

J Med Case Rep
Background: Glucose-6-phosphate isomerase deficiency is a rare genetic disorder causing hereditary nonspherocytic hemolytic anemia. It is the second most common glycolytic enzymopathy in red blood cells.
Holme S, van Wijk R, Rasmussen AØ, Petersen J, Glenthøj A.   +4 more
europepmc   +3 more sources

Genotype- phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency [PDF]

, 2020
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 enrolled in the PKD Natural History Study.
Addonizio, Kathryn, Al‐sayegh, Hasan, Andres, Oliver, Barcellini, Wilma, Beers, Eduard J., Bianchi, Paola, Chonat, Satheesh, Despotovic, Jenny M., Fermo, Elisa, Gallagher, Patrick G., Glader, Bertil, Grace, Rachael F. F., Holzhauer, Susanne, Kollmar, Nina, Kunz, Joachim, Kuo, Kevin H. M., Kwiatkowski, Janet L., Lezon‐geyda, Kimberly, London, Wendy B., Morton, Holmes D., Newburger, Peter E., Ravindranath, Yaddanapudi, Sharma, Mukta, Verhovsek, Madeleine, Wang, Heng, Wijk, Richard, Wlodarski, Marcin W., Yaish, Hassan M.   +27 more
core   +1 more source

Coexistence of congenital red cell pyruvate kinase and band 3 deficiency [PDF]

, 2003
The authors report the case of a 9-year-old Caucasian girl, born in northern Portugal, with chronic nonspherocytic haemolytic anaemia and without family history of anaemia. The aethiological study of this anaemia revealed pyruvate kinase deficiency (PKD),
Barbot, José, Branca, Rosa, Cabeda, José, Coelho, Henrique, Costa, Elísio, Quintanilha, Alexandre, Rocha, Susana, Santos-Silva, Alice   +7 more
core   +1 more source

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I [PDF]

, 2022
Background. Pyruvate kinase (PK) deficiency is the most common enzyme abnormality in the glycolytic pathway. Here, we describe two siblings with PK deficiency that mimicked congenital dyserythropoietic anemia (CDA) type I. Case.
Arzu Yazal Erdem, Ayça Koca Yozgat, Dilek Kaçar, Namık Yaşar Özbek, Neşe Yaralı   +4 more
core   +2 more sources

Clinical complications of G6PD deficiency in Latin American and Caribbean populations : systematic review and implications for malaria elimination programmes [PDF]

, 2014
Background: Although G6PDd individuals are generally asymptomatic throughout their life, the clinical burden of this genetic condition includes a range of haematological conditions, including acute haemolytic anaemia (AHA), neonatal jaundice (NNJ) and ...
Bassat, Quique, Brito, Marcelo, Franca, Gabriel Peixoto, Lacerda, Marcus Vinícius Guimarães de, Melo, Gisely Cardoso de, Monteiro, Wuelton Marcelo, Oliveira, Maria Regina Fernandes de, Peixoto, Henry Maia, Queiroz, Amanda de Lourdes Maciel, Romero, Gustavo Adolfo Sierra   +9 more
core   +2 more sources

Case report: Modified transplantation for pediatric patients with pyruvate kinase deficiency. [PDF]

Front Immunol
Pyruvate kinase deficiency (PKD) is an autosomal recessive genetic disease caused by mutations in the PKLR gene. To date, the clinical manifestations of PKD are heterogeneous, ranging from fetal anemia, neonatal jaundice, and severe chronic hemolytic ...
Pang Y, Qi X, Qin J, Zhai X, Wang R, Cao J, Zhang N, Liu J, Li J, Wu W, Wei S, Zhang J, Zhang S, Zhang Y, Yue Y.   +14 more
europepmc   +3 more sources

Glucose-6-phosphate Dehydrogenase Deficiency: A Review [PDF]

, 2020
Deficiency of glucose-6-phosphate dehydrogenase enzyme is a common X-linked disorder that affects humans globally. It was first identified in the 1950s as a disorder that primarily affects the red blood cells causing a myriad of symptoms including acute ...
Greenfield, Graeme, Ravikumar, Nidhruv
core   +2 more sources

Glucose-6-phosphate dehydrogenase (G6PD) mutations and haemoglobinuria syndrome in the Vietnamese population [PDF]

, 2009
BACKGROUND: In Vietnam the blackwater fever syndrome (BWF) has been associated with malaria infection, quinine ingestion and G6PD deficiency. The G6PD variants within the Vietnamese Kinh contributing to the disease risk in this population, and more ...
Charlieu, JP, Chau, TT, Day, N, Dunstan, Sarah, Farrar, JJ, Hien, Tran, Hue, NT   +6 more
core   +4 more sources

Effects of Oral Supplementation of Vitamin E on Fragility of RBC in Hemolytic Anemic Patients with G6PD Deficiency [PDF]

, 2009
Background: Vitamin E has role in maintaining the integrity of red cell membrane by preventing oxidation of polyunsaturated fatty acids and thereby protects cells from oxidative stress- induced lysis in G6PD deficiency, which can be reflected by changes ...
Ali, Taskina, Begum, Noorzahan, Begum, Shelina, Ferdousi, Sultana, Sultana, Nayma   +4 more
core   +6 more sources