Results 21 to 30 of about 638 (159)

Defective Erythrocyte Pyruvate Kinase with Impaired Kinetics and Reduced Optimal Activity [PDF]

, 1972
A unique mutant form of erythrocyte pyruvate kinase has been found associated with chronic haemolytic anaemia in a child who is apparently doubly heterozygous for the mutant isoenzyme and for pyruvate kinase deficiency of the classical quantitative type.
Baughan M.A., Boivin P., Borvnsr P., Bucher T., Koutras G.A., Krimsky I., Mentzer W., Minakami S., Ohyama H., Paglia D.E., Paglia D.E., Paglia D.E., Schneider A.S., Selwyn J.G., Tanaka K.R., Tanaka K.R., Tanaka K.R., Valentine W.N., Valentine W.N., Valentine W.N., Valentine W.N., Waller H.D., Zuelzer W.W.   +22 more
core   +1 more source

The phenotypic variability of HK1-associated retinal dystrophy. [PDF]

, 2017
Inherited retinal dystrophies (IRDs) are a clinically and genetically heterogeneous group of Mendelian disorders primarily affecting photoreceptor cells.
Chang, Emmanuel, Chen, Rui, Lewis, Richard, Li, Baiyu, Li, Huajin, Li, Yumei, Soens, Zachry, Sui, Ruifang, Wong, Lee-Jun, Wu, Shijing, Xu, Mingchu, Yang, Lizhu, Yuan, Zhisheng   +12 more
core   +2 more sources

Lecture notes by internal diseases [PDF]

, 2008
ВНУТРЕННИЕ БОЛЕЗНИУЧЕБНЫЕ ПОСОБИЯКурс лекций по внутренним болезням на английском языке предназначен для студентов факультетов подготовки иностранных граждан по специальности "Лечебное дело"
Konorev, M. R.
core   +1 more source

Glusoce-6-phosphate dehydrogenase- History and diagnosis

, 2016
Glucose-6-phosphate dehydrogenase deficiency is the most common enzymatic defect of red blood cells, which increases the vulnerability of erythrocytes to oxidative stress leading to hemolytic anemia.
K Gautam
core   +2 more sources

Mitapivat, a novel pyruvate kinase activator, for the treatment of hereditary hemolytic anemias [PDF]

, 2021
Mitapivat (AG-348) is a novel, first-in-class oral small molecule allosteric activator of the pyruvate kinase enzyme. Mitapivat has been shown to significantly upregulate both wild-type and numerous mutant forms of erythrocyte pyruvate kinase (PKR ...
Al-Samkari, Hanny, van Beers, Eduard J.
core   +1 more source

Oxidative stress in healthy and pathological red blood cells [PDF]

, 2023
Red cell diseases encompass a group of inherited or acquired erythrocyte disorders that affect the structure, function, or production of red blood cells (RBCs).
Laurance, Sandrine, Lefevre, Sophie D., López Royes, Ana Clara, Möller, Matías N., Orrico, Florencia, Ostuni, Mariano A., Thomson, Leonor   +6 more
core   +1 more source

A Proposed Concept for Defective Mitophagy Leading to Late Stage Ineffective Erythropoiesis in Pyruvate Kinase Deficiency [PDF]

, 2021
Pyruvate kinase deficiency (PKD) is a rare congenital hemolytic anemia caused by mutations in the PKLR gene. Here, we review pathophysiological aspects of PKD, focusing on the interplay between pyruvate kinase (PK)-activity and reticulocyte maturation in
van Beers, Eduard, van Vuren, Annelies, van Wijk, Richard   +2 more
core  

Monogenic Disorders of ROS Production and the Primary Anti-Oxidative Defense. [PDF]

Biomolecules
Oxidative stress, characterized by an imbalance between the production of reactive oxygen species (ROS) and the cellular anti-oxidant defense mechanisms, plays a critical role in the pathogenesis of various human diseases.
Grüning NM, Ralser M.
europepmc   +3 more sources

GENETIC DISORDERS OF RED CELL GLYCOLYSIS : A REVIEW FROM THE MOLECULAR TO CLINICAL AND THERAPEUTIC APROACHES

Mediterranean Journal of Hematology and Infectious Diseases, 2014
The erythrocyte, devoid of nucleus, mitochondria,ribosomes and other organelles, has no capacity for cell replication, protein synthesis, or oxidative phosphorylation.
SOPHIA DELICOU, THEONI KANELLOPOULOU, CHRYSSANTHI KONTAXI, ARGIRI VLACHOPOULOU, ZOI PALANTZA, KONSTANTINOS MARAGKOS   +5 more
doaj  

Hereditary hemolytic anemia in Korea from 2007 to 2011: A study by the Korean Hereditary Hemolytic Anemia Working Party of the Korean Society of Hematology [PDF]

, 2013
BACKGROUND: The number of patients diagnosed with hereditary hemolytic anemia (HHA) has increased since the advent of novel diagnostic techniques that accurately identify this disorder.
유철주
core   +1 more source