Results 221 to 230 of about 33,034 (254)
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AMPD3‐deficient mice exhibit increased erythrocyte ATP levels but anemia not improved due to PK deficiency

Genes to Cells, 2012
AMP deaminase (AMPD) catalyzes AMP to IMP and plays an important role in energy charge and nucleotide metabolism. Human AMPD3 deficiency is a type of erythrocyte‐specific enzyme deficiency found in individuals without clinical symptoms, although an increased level of ATP in erythrocytes has been reported.
Jidong, Cheng   +5 more
openaire   +2 more sources

Conversion of pyruvate kinase (PK) isozymes during development of normal and PK deficient erythroblasts.

Biomedica biochimica acta, 1984
Using immunofluorescent antibody techniques, conversion of pyruvate kinase (PK) isozymes during the maturation of erythroblasts was studied. In normal subjects, M2-type PK was clearly seen at the proerythroblast stage, then markedly declined with cell maturation, whereas L-type PK continued to increase.
S, Miwa, S, Takegawa
openaire   +1 more source

DRIVE PK: A Phase 2 Trial of AG-348 in Patients with Pyruvate Kinase Deficiency

Blood, 2015
Abstract INTRODUCTION: Pyruvate kinase (PK) deficiency is a congenital hemolytic anemia caused by deficient function of the PK enzyme. This condition is currently managed with supportive care, including transfusions, folate supplementation, splenectomy, and reducing iron overload, but there are no treatments specifically ...
Ann Barbier   +8 more
openaire   +1 more source

[Pyruvate kinase (PK) isozyme switching and genetic heterogeneity of PK deficiency].

Nihon rinsho. Japanese journal of clinical medicine, 1995
Pyruvate kinase (PK) is a key glycolytic enzyme and has two structural genes; the L/R-gene encodes the L- and R-type PK, whereas the M-gene encodes the M1- and M2-type isozymes. The isozyme switches from the M2 to the R-type during erythroid differentiation, and recent results showed that the switching was achieved by activation of the R-PK promoter ...
openaire   +1 more source

Erythrocyte PK deficiency: biochemical characterization of a patient with haemolytic anemia.

Haematologia, 1987
Erythrocyte pyruvate kinase deficiency was detected in a Cuban girl with congenital nonspherocytic haemolytic anemia. Kinetic and immunochemical studies showed that the case was different from those hitherto reported. The variant(s) was tentatively designated PK "Alquizar", following the recommendations of the International Committee for ...
R, González   +5 more
openaire   +1 more source

Studies on Pyruvate Kinase (PK) Deficiency

The Journal of Biochemistry, 1973
Kiichi IMAMURA   +4 more
openaire   +1 more source

Salicylates and PK-deficient Reticulocytes

New England Journal of Medicine, 1976
openaire   +1 more source

Hiding in Plain Sight: Modern Thiamine Deficiency

Cells, 2021
Chandler Marrs   +2 more
exaly  

Human dendritic cell deficiency: the missing ID?

Nature Reviews Immunology, 2011
Matthew Collin   +2 more
exaly  

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