Over the past few years the inherited disorders of erythrocyte metabolism have been the object of intensive research which has resulted in a better understanding of their molecular basis. However, curative therapy for red blood cell (RBC) enzyme defects still remains undeveloped. Among glycolyti
A new mutant pyruvate kinase (ATP: pyruvate phosphotransferase, EC 2.7.1.40) from human erythrocytes...
The goal of the present study was to search for criteria that allow one to distinguish between norma...
An international, multicenter registry was established to collect retrospective and prospective clin...
Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of glycolysis causi...
Here, we present a 7-year-old patient suffering from severe haemolytic anaemia. The most common caus...
Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase de...
Metabolically defective red blood cells are old before their time, and suffer from metabolic progeri...
The PK-LR gene was studied in 23 patients with congenital haemolytic anaemia associated with erythro...
Background: Pyruvate kinase deficiency (PKD) is the most frequent congenital enzymatic defect of gly...
Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the...
Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic nonspherocytic he...
Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PK...
Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase de...
We present a novel G1091 to A mutation in the human liver of RBC PK, whereas the G1529 to A mutation...
An international, multicenter registry was established to collect retrospective and prospective clin...
A new mutant pyruvate kinase (ATP: pyruvate phosphotransferase, EC 2.7.1.40) from human erythrocytes...
The goal of the present study was to search for criteria that allow one to distinguish between norma...
An international, multicenter registry was established to collect retrospective and prospective clin...
Red cell pyruvate kinase (PK) deficiency is the most frequent enzyme abnormality of glycolysis causi...
Here, we present a 7-year-old patient suffering from severe haemolytic anaemia. The most common caus...
Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase de...
Metabolically defective red blood cells are old before their time, and suffer from metabolic progeri...
The PK-LR gene was studied in 23 patients with congenital haemolytic anaemia associated with erythro...
Background: Pyruvate kinase deficiency (PKD) is the most frequent congenital enzymatic defect of gly...
Human erythrocyte pyruvate kinase plays an important role in erythrocyte metabolism. Mutation on the...
Pyruvate kinase (PK) deficiency is known as being the most common cause of chronic nonspherocytic he...
Pyruvate kinase deficiency (PKD) is a rare erythroid metabolic disease caused by mutations in the PK...
Deficiency of human erythrocyte isozyme (RPK) is, together with glucose-6-phosphate dehydrogenase de...
We present a novel G1091 to A mutation in the human liver of RBC PK, whereas the G1529 to A mutation...
An international, multicenter registry was established to collect retrospective and prospective clin...
A new mutant pyruvate kinase (ATP: pyruvate phosphotransferase, EC 2.7.1.40) from human erythrocytes...
The goal of the present study was to search for criteria that allow one to distinguish between norma...
An international, multicenter registry was established to collect retrospective and prospective clin...
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