Results 1 to 10 of about 38,743 (241)

Pyruvate Kinase Deficiency Causing Priapism [PDF]

Case Reports in Hematology, 2023
Pyruvate kinase deficiency (PKD) is an autosomal recessive defect of the enzyme pyruvate kinase (PK) which is involved in catalyzing a reaction that produces ATP in the glycolytic pathway. It is the most common defect of the glycolytic pathway associated
Vinay Hanyalu Shankar, Bharadwaj Adithya-Sateesh, Nicole Gousy, Girma Ayele, Freyr Petursson, Rediet Atalay, Miriam Michael   +6 more
doaj   +4 more sources

Molecular heterogeneity of pyruvate kinase deficiency [PDF]

Haematologica, 2020
Red cell pyruvate kinase (PK) deficiency is the most common glycolytic defect associated with congenital non-spherocytic hemolytic anemia. The disease, transmitted as an autosomal recessive trait, is caused by mutations in the PKLR gene and is ...
Paola Bianchi, Elisa Fermo
doaj   +5 more sources

Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease‐specific assessments [PDF]

European Journal of Haematology, 2020
AbstractIntroductionCurrently recommended patient‐reported outcome (PRO) measures for patients with pyruvate kinase (PK) deficiency are non‐disease‐specific. The PK Deficiency Diary (PKDD) and PK Deficiency Impact Assessment (PKDIA) were developed to be more targeted measures for capturing the symptoms and impacts of interest to this patient population.
Rachael Grace, , Robert Klaassen
exaly   +4 more sources

Pyruvate kinase activators for treatment of pyruvate kinase deficiency [PDF]

Hematology, 2023
Abstract Pyruvate kinase (PK) deficiency is a congenital hemolytic anemia with wide-ranging clinical symptoms and complications associated with significant morbidity and reduced health-related quality of life in both children and adults.
Grace RF.
openaire   +3 more sources

Psychometric validation of the Pyruvate Kinase Deficiency Diary and Pyruvate Kinase Deficiency Impact Assessment in adults in the phase 3 ACTIVATE trial [PDF]

Journal of Patient-Reported Outcomes, 2023
Background Pyruvate kinase (PK) deficiency is a rare hereditary disorder characterized by chronic hemolytic anemia and serious sequalae which negatively affect patient quality of life.
David A. Andrae, Rachael F. Grace, Adrian Jewett, Brandon Foster, Robert J. Klaassen, Sam Salek, Junlong Li, Feng Tai, Audra N. Boscoe, Erin Zagadailov   +9 more
doaj   +2 more sources

Pyruvate kinase deficiency

Haematologica, 2007
Over the past few years the inherited disorders of erythrocyte metabolism have been the object of intensive research which has resulted in a better understanding of their molecular basis. However, curative therapy for red blood cell (RBC) enzyme defects still remains undeveloped.
Alberto Zanella, Paola Bianchi, Elisa Fermo   +2 more
doaj   +4 more sources

Pyruvate kinase deficiency in children [PDF]

Pediatric Blood & Cancer, 2021
AbstractBackgroundPyruvate kinase deficiency (PKD) is a rare, autosomal recessive red blood cell enzyme disorder, which leads to lifelong hemolytic anemia and associated complications from the disease and its management.MethodsAn international, multicenter registry enrolled 124 individuals younger than 18 years old with molecularly confirmed PKD from ...
Satheesh Chonat, Stefan W. Eber, Susanne Holzhauer, Nina Kollmar, D. Holmes Morton, Bertil Glader, Ellis J. Neufeld, Hassan M. Yaish, Jennifer A. Rothman, Mukta Sharma, Yaddanapudi Ravindranath, Heng Wang, Vicky R. Breakey, Sujit Sheth, Heather A. Bradeen, Hasan Al‐Sayegh, Wendy B. London, Rachael F. Grace   +17 more
openaire   +4 more sources

Updates and advances in pyruvate kinase deficiency [PDF]

Trends in Molecular Medicine, 2023
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 the red cell membrane and function. Heterogeneous clinical manifestations can result in significant morbidity and reduced health-related quality of life.
Neeti Luke, Kirsty Hillier, Hanny Al-Samkari, Rachael F. Grace   +3 more
openaire   +3 more sources

Pyruvate Kinase Deficiency: Current Challenges and Future Prospects [PDF]

Journal of Blood Medicine, 2022
Bruno Fattizzo,1,2 Francesca Cavallaro,1,2 Anna Paola Maria Luisa Marcello,1 Cristina Vercellati,1 Wilma Barcellini1 1Hematology Unit, Fondazione IRCCS Ca’ Granda Ospedale Maggiore Policlinico, Milan, Italy; 2Department of Oncology and Hemato-Oncology ...
Fattizzo B, Cavallaro F, Marcello APML, Vercellati C, Barcellini W   +4 more
doaj   +2 more sources

Pyruvate kinase deficiency and PKLR gene mutations: Insights from molecular dynamics simulation analysis [PDF]

Heliyon
Pyruvate kinase deficiency is a rare hereditary erythrocyte enzyme disease caused by mutations in the pyruvate kinase liver and red blood cell gene. The clinical presentations of pyruvate kinase deficiency are significantly heterogeneous, ranging from ...
Yang Wang, Jiaqi Liu, Tao Liu, Xizhou An, Lan Huang, Jiacheng Li, Yongjie Zhang, Yan Xiang, Li Xiao, Weijia Yi, Jiebin Qin, Lili Liu, Cuilan Wang, Jie Yu   +13 more
doaj   +2 more sources