Zobrazeno 1 - 10
of 1 070
pro vyhledávání: '"pyruvate kinase deficiency"'
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 9, Iss 4, Pp 235-243 (2024)
Red blood cell enzyme deficiencies are a rare category of hemolytic anaemia that typically present in children with varying degrees of hemolysis, indirect hyperbilirubinemia and splenomegaly. Glucose 6-phosphate dehydrogenase (G6PD) is the most commo
Externí odkaz:
https://doaj.org/article/5f0fdbcacd754354a437f28aefb7d1d1
Publikováno v:
Hematology Reports, Vol 16, Iss 3, Pp 559-567 (2024)
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
Externí odkaz:
https://doaj.org/article/b353547b2dfe415f8a3c5806e61d19ad
Autor:
Ritika Khurana, Sangeeta Mudaliar
Publikováno v:
Pediatric Hematology Oncology Journal, Vol 9, Iss 2, Pp 101-104 (2024)
Mitapivat is the first in class oral allosteric activator of pyruvate kinase enzyme, leading to increased ATP production. Since red blood cells (RBC) rely on anaerobic metabolism, converting phosphoenolpyruvate to pyruvate in Embden– Meyerhof glyco
Externí odkaz:
https://doaj.org/article/0f9179ff890443a3a6ab60f2f88bcece
Autor:
Erin Zagadailov, Hanny Al-Samkari, Audra N. Boscoe, Bryan McGee, Sherry Shi, Dendy Macaulay, Lizheng Shi, Viviana Garcia-Horton
Publikováno v:
Hematology, Vol 29, Iss 1 (2024)
ABSTRACTReal-world studies of pyruvate kinase (PK) deficiency and estimates of mortality are lacking. This retrospective observational study aimed to identify patients with PK deficiency and compare their overall survival (OS) to that of a matched co
Externí odkaz:
https://doaj.org/article/e7058f48d3a6442cba6ae5e2e90410fe
Autor:
David A. Andrae, Rachael F. Grace, Adrian Jewett, Brandon Foster, Robert J. Klaassen, Sam Salek, Junlong Li, Feng Tai, Audra N. Boscoe, Erin Zagadailov
Publikováno v:
Journal of Patient-Reported Outcomes, Vol 7, Iss 1, Pp 1-11 (2023)
Abstract 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. This study aimed to psychometrically validate the first
Externí odkaz:
https://doaj.org/article/f607b4e929e24ad3b4e8b6a8b9dc0dbe
Autor:
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
Publikováno v:
Heliyon, Vol 10, Iss 5, Pp e26368- (2024)
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 fro
Externí odkaz:
https://doaj.org/article/84f139f067844a0aa8f9262ae951cbca
Publikováno v:
Journal of Blood Medicine, Vol Volume 13, Pp 461-471 (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-Oncol
Externí odkaz:
https://doaj.org/article/3cc2e1fa427b4faa9b3a4ac160c4c9aa
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Pyruvate Kinase Deficiency (PKD) and Crigler-Najjar syndrome are rare autosomal recessive liver diseases. PKD is caused by homozygous or compound heterozygous mutations in the PKLR gene, leading to non-spherocytic hereditary hemolytic anemia. On the
Externí odkaz:
https://doaj.org/article/c53bbf4677fc49a89a4641a5f66fdbc4
Akademický článek
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Publikováno v:
Cellular, Molecular and Biomedical Reports, Vol 2, Iss 2, Pp 116-128 (2022)
Human beings are sometime expose to the same to predisposing factors of a given infectious disease, but the outcome in terms of disease manifestation differs greatly. This variation is mainly attributed to the genetic makeup of such individuals; this
Externí odkaz:
https://doaj.org/article/08bf7305a5fa4febb0f76838eb8c678c