Results 11 to 20 of about 38,743 (241)

The Pyruvate Kinase Deficiency Global Longitudinal (Peak) Registry: rationale and study design [PDF]

BMJ Open, 2023
Introduction Pyruvate kinase (PK) deficiency is a rare, under-recognised, hereditary condition that leads to chronic haemolytic anaemia and potentially serious secondary complications, such as iron overload, cholecystitis, pulmonary hypertension and ...
Yan Yan, Junlong Li, D Mark Layton, Rachael F Grace, Vip Viprakasit, Eduard J van Beers, Joan-Lluis Vives Corrons, Bertil Glader, Andreas Glenthøj, Hitoshi Kanno, Kevin H M Kuo, Carl Lander, Dagmar Pospíŝilová, Audra N Boscoe, Chris Bowden, Paola Bianchi   +15 more
doaj   +2 more sources

Pyruvate kinase deficiency links metabolic perturbations to neurodegeneration and axonal protection [PDF]

Molecular Metabolism
Objective: Metabolic disruption is a central feature to many neurodegenerative diseases. Despite this, many gaps exist in our understanding of how these perturbations link to the mechanisms of neural disease.
Thomas J. Waller, Catherine A. Collins, Monica Dus   +2 more
doaj   +2 more sources

Mitapivat for Acquired Pyruvate Kinase Deficiency [PDF]

Pediatric Blood & Cancer
ABSTRACTPyruvate kinase (PK) activation is emerging as a promising treatment modality for numerous congenital hemolytic anemias of diverse pathophysiology, and one agent, mitapivat, is already licensed to treat patients with congenital PK deficiency.
Al-Samkari H.
openaire   +3 more sources

How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency [PDF]

Hematology Reports
Background: Pyruvate kinase (PK) deficiency is an inherited red blood cell (RBC) enzyme disorder that results in non-immune chronic hemolytic anemia. Characteristic symptoms of PK deficiency include anemia, fatigue, splenomegaly, jaundice, gallstones ...
Sara Tama-Shekan, Valeria Moreno, Ludovic Saba, Chakra P. Chaulagain   +3 more
doaj   +2 more sources

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

Frontiers in Immunology
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 ...
Yuhui Pang, Xiaoyu Qi, Jiayue Qin, Xiaoran Zhai, Rongxiao Wang, Jianzhu Cao, Na Zhang, Jinxia Liu, Jianying Li, Weihai Wu, Shanshan Wei, Jingjing Zhang, Shaofei Zhang, Yaochen Zhang, Yan Yue   +14 more
doaj   +2 more sources

Neonatal Pyruvate Kinase Deficiency Presenting with Severe Hemolytic Anemia and Liver Failure [PDF]

Children
Background: Pyruvate kinase deficiency (PKD) is the most prevalent enzymatic defect of the glycolytic pathway, causing chronic congenital non-spherocytic hemolytic anemia.
Yung-Han Hsu, Chuen-Bin Jiang, Jen-Yin Hou, Wai-Tim Jim, Shuan-Pei Lin, Szu-Wen Chang, Kai-Ti Tseng, Ni-Chung Lee   +7 more
doaj   +2 more sources

Clinical outcome and genotype analysis of four Chinese children with pyruvate kinase deficiency [PDF]

Molecular Genetics & Genomic Medicine, 2023
Background Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia. Here, we summarized the clinical features and laboratory examinations of four Chinese children with PKD and analyze genomic mutations.
Fei Xie, Lu Gan, Lei Lei, Tengguang Cai, Yu Gao, Xiaoying Liu, Bin Cai, Lin Zhou   +7 more
doaj   +2 more sources

Comorbidities and complications in adults with pyruvate kinase deficiency [PDF]

European Journal of Haematology, 2021
Hanny Al-Samkari, Rachael Grace, Ellis Neufeld   +2 more
exaly   +2 more sources

A Sri Lankan girl with a new genetic variant in the PKLR gene causing pyruvate kinase deficiency: a case report

Journal of Medical Case Reports, 2021
Background Erythrocyte pyruvate kinase is expressed under the control of the PKLR gene located on chromosome 1q21. Pyruvate kinase catalyzes the final steps of the glycolytic pathway and creates 50% of the red cell total adenosine triphosphate.
Ahalyaa Sivashangar, Lallindra Gooneratne, Barnaby Clark, David Rees, Saroj Jayasinghe, Claire Laas   +5 more
doaj   +1 more source

Pyruvate kinase deficiency mimicking congenital dyserythropoietic anemia type I

The Turkish Journal of Pediatrics, 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.
Ayça Koca Yozgat, Arzu Yazal Erdem, Dilek Kaçar, Namık Yaşar Özbek, Neşe Yaralı   +4 more
doaj   +1 more source