Results 31 to 40 of about 33,034 (254)

How We Treat Hemolytic Anemia Due to Pyruvate Kinase Deficiency

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   +1 more source

Erythrocyte Pyruvate Kinase Deficiency mutation identified in multiple breeds of domestic cats

BMC Veterinary Research, 2012
Background Erythrocyte pyruvate kinase deficiency (PK deficiency) is an inherited hemolytic anemia that has been documented in the Abyssinian and Somali breeds as well as random bred domestic shorthair cats.
Grahn Robert A, Grahn Jennifer C, Penedo Maria CT, Helps Chris R, Lyons Leslie A   +4 more
doaj   +1 more source

Pyruvate Kinase Deficiency Causing Priapism

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   +1 more source

High Resolution Crystal Structure of the Pyruvate Kinase Tetramer in Complex with the Allosteric Activator Mitapivat/AG-348

Crystals
Pyruvate kinase (PK) deficiency is a rare genetic disorder that affects this critical enzyme within the glycolysis pathway. In recent years, Mitapivat (MTPV, AG-348) has emerged as a notable allosteric activator for treating PK deficiency.
Xiao Han, Tatyana Sandalova, Cheng Zhang, Adil Mardinoglu, Adnane Achour, Renhua Sun   +5 more
doaj   +1 more source

Phenotypic and molecular genetic analysis of Pyruvate Kinase deficiency in a Tunisian family

Egyptian Journal of Medical Human Genetics, 2016
Pyruvate Kinase (PK) deficiency is the most frequent red cell enzymatic defect responsible for hereditary non-spherocytic hemolytic anemia. The disease has been studied in several ethnic groups. However, it is yet an unknown pathology in Tunisia.
Jaouani Mouna, Hamdi Nadia, Chaouch Leila, Kalai Miniar, Mellouli Fethi, Darragi Imen, Boudriga Imen, Chaouachi Dorra, Bejaoui Mohamed, Abbes Salem   +9 more
doaj   +1 more source

Molecular-Level Insights into Phosphorus Transformation Mechanisms in Entisol Soils under Multiple Long-Term Fertilization Regimes

Agronomy, 2022
Improving phosphorus (P) fertilization strategies benefits mitigating future global P shortage and reducing legacy P loss risk in agricultural lands. In this study, the molecular transformation mechanisms of P in Entisol soils under multiple long-term ...
Jin Liu, Chaoqun Han, Yuhang Zhao, Dongling Yang, Jianjun Yang, Lei Zheng, Yongfeng Hu, Jumei Li, Peng Sui, Yuanquan Chen, Xiaojun Shi, Yibing Ma   +11 more
doaj   +1 more source

Molecular Characterization of PK-LR Gene in Pyruvate Kinase–Deficient Italian Patients [PDF]

Blood, 1997
AbstractWe studied the PK-LR gene in 15 unrelated Italian patients with congenital hemolytic anemia associated with erythrocyte pyruvate kinase (PK) deficiency. Fourteen different mutations were detected among 26 mutated alleles identified: a five-nucleotide (nt) deletion (227 to 231), two splice-site (1269C and IVS3(−2)c), 10 missense (514C, 787T ...
ZANELLA A, BIANCHI P, BARONCIANI L, ZAPPA M, BREDI E, VERCELLATI C, ALFINITO, FIORELLA, PELISSERO G, SIRCHIA G.   +8 more
openaire   +4 more sources

Association Between Dinutuximab Beta Exposure and Post‐End‐of‐Treatment Survival in Neuroblastoma: A Weighted Patient‐Level Analysis of Three Clinical Studies

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Objectives The association between exposure to dinutuximab beta (DB) and event‐free survival (EFS) or overall survival (OS) of neuroblastoma patients was assessed using data collected during three clinical trials (five cohorts). Methods A systematic review (March 2026) was conducted to identify relevant studies (prospective; registered DB ...
Przemysław Holko, Holger N. Lode, Alberto Garaventa, Carla Manzitti, Roberto Luksch, Dominique Valteau‐Couanet, Marion Gambart, John Anderson, Juliet Gray, Adela Canete, Lucas Moreno, Aleksandra Wieczorek, Cormac Owens, Shifra Ash, Isaac Yaniv, Genevieve Laureys, Hans Loibner, Katarzyna Śladowska, Ruth Ladenstein, Paweł Kawalec   +19 more
wiley   +1 more source

Determining Parental Factors for Clinical Trial Attrition in Pediatric Acute Lymphoblastic Leukemia

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Background/Objectives Despite high enrollment rates on Children's Oncology Group (COG) protocols, attrition after initial consent is challenging, introducing bias and prolonging trial completion. While adult oncology literature has identified predictors of withdrawal, little is known about caregiver decision‐making for child participation in ...
Kimberly L. Stathas, Jakob Q. Weiss, Kellee N. Parker, Cathy Lee‐Miller   +3 more
wiley   +1 more source

Transferrin receptor 1‐mediated iron uptake supports thermogenic activation in human cervical‐derived adipocytes

FEBS Letters, EarlyView.
In this study, we found that human cervical‐derived adipocytes maintain intracellular iron level by regulating the expression of iron transport‐related proteins during adrenergic stimulation. Melanotransferrin is predicted to interact with transferrin receptor 1 based on in silico analysis.
Rahaf Alrifai, Mizuki Seo, Gyath Karadsheh, Fachrur Rizal Mahendra, Máté Á Demény, Ferenc Győry, János András Mótyán, László Fésüs, Endre Kristóf, Rini Arianti   +9 more
wiley   +1 more source