Results 11 to 20 of about 33,034 (254)

Midterm outcomes of penetrating keratoplasty following allogeneic cultivated limbal epithelial transplantation in patients with bilateral limbal stem cell deficiency [PDF]

International Journal of Ophthalmology, 2021
AIM: To evaluate the midterm outcomes of penetrating keratoplasty (PK) following allogeneic cultivated limbal epithelial transplantation (CLET) for bilateral total limbal stem cell deficiency (LSCD).
Jun-Fa Xue, Dong-Fang Li, Ya-Ni Wang, Chen Chen, Ru-Fei Yang, Qing-Jun Zhou, Ting Liu, Li-Xin Xie, Yan-Ling Dong   +8 more
doaj   +1 more source

Case report: Compound heterozygosity in PKLR gene with a large exon deletion and a novel rare p.Gly536Asp variant as a cause of severe pyruvate kinase deficiency

Frontiers in Pediatrics, 2022
Red cell pyruvate kinase (PK) deficiency is the most common cause of hereditary nonspherocytic hemolytic anemia and the most frequent enzyme abnormality of the glycolytic pathway. To the best of our knowledge, this is the first Korean PK deficiency study
Minsun Kim, Seung Yeob Lee, Seung Yeob Lee, Namsu Kim, Namsu Kim, Jaehyeon Lee, Jaehyeon Lee, Dal Sik Kim, Dal Sik Kim, Joonhong Park, Joonhong Park, Yong Gon Cho, Yong Gon Cho   +12 more
doaj   +1 more source

AG-348 (Mitapivat), an allosteric activator of red blood cell pyruvate kinase, increases enzymatic activity, protein stability, and ATP levels over a broad range of PKLR genotypes

Haematologica, 2020
Pyruvate kinase (PK) deficiency is a rare hereditary disorder affecting red cell (RBC) glycolysis, causing changes in metabolism including a deficiency in ATP.
Minke A.E. Rab, Brigitte A. van Oirschot, Penelope A. Kosinski, Jeffrey Hixon, Kendall Johnson, Victor Chubukov, Lenny Dang, Gerard Pasterkamp, Stephanie van Straaten, Wouter W. van Solinge, Eduard J. van Beers, Charles Kung, Richard van Wijk   +12 more
doaj   +1 more source

A Rare Cause of Isolated Prolonged Activated Partial Thromboplastin Time: An Overview of Prekallikrein Deficiency and the Contact System

Journal of Investigative Medicine High Impact Case Reports, 2021
Prekallikrein (PK) deficiency, also known as Fletcher factor deficiency, is a very rare disorder inherited as an autosomal recessive trait. It is usually identified incidentally in asymptomatic patients with a prolonged activated partial thromboplastin ...
Ivy Riano MD, Klaorat Prasongdee MD
doaj   +1 more source

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

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   +1 more source

The mouse Char10 locus regulates severity of pyruvate kinase deficiency and susceptibility to malaria. [PDF]

PLoS ONE, 2017
Pyruvate kinase (PKLR) deficiency protects mice and humans against blood-stage malaria. Although mouse strain AcB62 carries a malaria-protective PklrI90N genetic mutation, it is phenotypically susceptible to blood stage malaria induced by infection with ...
Aurélie Laroque, Gundula Min-Oo, Mifong Tam, Prem Ponka, Mary M Stevenson, Philippe Gros   +5 more
doaj   +1 more source

The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency

British Journal of Haematology, 2020
SummaryDiagnosis of pyruvate kinase deficiency (PKD), the most common cause of hereditary non‐spherocytic haemolytic anaemia, remains challenging in routine practice and no biomarkers for clinical severity have been characterised. This prospective study enrolled 41 patients with molecularly confirmed PKD from nine North American centres to evaluate the
Hanny Al‐Samkari, Kathryn Addonizio, Bertil Glader, D. Holmes Morton, Satheesh Chonat, Alexis A. Thompson, Kevin H. M. Kuo, Yaddanapudi Ravindranath, Heng Wang, Jennifer A. Rothman, Janet L. Kwiatkowski, Charles Kung, Penelope A. Kosinski, Hasan Al‐Sayegh, Wendy B. London, Rachael F. Grace   +15 more
openaire   +4 more sources

Molecular heterogeneity of pyruvate kinase deficiency

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   +1 more source

Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

PLoS ONE, 2012
BackgroundPyruvate kinase (PK) deficiency, causing hemolytic anemia, has been associated to malaria protection and its prevalence in sub-Saharan Africa is not known so far.
Patrícia Machado, Licínio Manco, Cláudia Gomes, Cristina Mendes, Natércia Fernandes, Graça Salomé, Luis Sitoe, Sérgio Chibute, José Langa, Letícia Ribeiro, Letícia Ribeiro, Juliana Miranda, Jorge Cano, João Pinto, António Amorim, Virgílio E do Rosário, Ana Paula Arez   +16 more
doaj   +1 more source

Pyruvate Kinase (PK) Deficiency Hereditary Nonspherocytic Hemolytic Anemia [PDF]

Blood, 1962
Abstract 1. The erythrocytes of seven patients conforming to the criteria of Type II congenital nonspherocytic hemolytic anemia have been demonstrated to have a specific deficiency in the glycolytic enzyme pyruvate kinase. Other glycolytic enzymes, glucose-6-phosphate and 6-phosphogluconic dehydrogenases, and certain non-glycolytic ...
K R, TANAKA, W N, VALENTINE, S, MIWA
openaire   +2 more sources