On the molecular basis pyruvate kinase deficiency (original) (raw)

Clinica Chimica Acta, 1977

The variable manifestations of disease in pyruvate kinase deficiency and their management

Rachael Grace

Haematologica

Normalisation of red blood cell pyruvate kinase in pyruvate kinase deficiency by riboflavin treatment

Clinica Chimica Acta, 1975

Defective Erythrocyte Pyruvate Kinase with Impaired Kinetics and Reduced Optimal Activity

British Journal of Haematology, 1972

An inherited molecular lesion of erythrocyte pyruvate kinase

Journal of Clinical Investigation, 1968

Pyruvate kinase and the "high ATP syndrome

Dirk Roos

Journal of Clinical Investigation, 1984

Biochemical characterization of three mutant isozymes of erythrocyte pyruvate kinase: PK-“Gainesville,” PK-“San Juan,” and PK-“Cape Canaveral”

American Journal of Hematology, 1983

Red cell pyruvate kinase deficiency: molecular and clinical aspects

British Journal of Haematology, 2005

Pyruvate kinase Greensboro. A four-generation study of a high K0.5s (phosphoenolpyruvate) variant

Blood, 1988

Comparative kinetic behaviour and regulation by fructose-1,6-bisphosphate and ATP of pyruvate kinase from erythrocytes, reticulocytes and bone marrow cells

Manuel Pineda

Comparative Biochemistry and Physiology Part B: Comparative Biochemistry, 1987

Acquired pyruvate kinase deficiency. The effect of maleic acid upon human erythrocyte pyruvate kinase

Erik Sprengers

Clinica Chimica Acta, 1979

Human erythrocyte pyruvate kinase: characterization of the recombinant enzyme and a mutant form (R510Q) causing nonspherocytic hemolytic anemia

Blood, 2001

M-type pyruvate kinase of leucocytes: an allosteric enzyme

Biochimica et biophysica acta, 1973

Two interconvertible forms of L-type pyruvate kinase from rat liver

Biochimica et biophysica acta, 1973

The pyruvate kinase (PK) to hexokinase enzyme activity ratio and erythrocyte PK protein level in the diagnosis and phenotype of PK deficiency

Bertil Glader

British Journal of Haematology, 2020

Structure and Function of Human Erythrocyte Pyruvate Kinase

Journal of Biological Chemistry, 2002

Electrophoretic demonstration of heterozygosis in hereditary pyruvate kinase deficiency

Joan Lluis Vives Corrons

Human Genetics, 1979

Biochemical nature of pyruvate dehydrogenase complex in the patient with primary lactic acidaemia

Fumio Endo

Journal of Inherited Metabolic Disease, 1989

Biphasic reaction kinetics in an anomalous isozyme of erythrocyte pyruvate kinase

Clinica Chimica Acta, 1976

Pyruvate kinase deficiency

Haematologica, 2007

Prevalence of pyruvate kinase deficiency among the south Iranian population: Quantitative assay and molecular analysis

Majid Yavarian

Blood Cells Molecules and Diseases, 2008

Regulation of rat liver pyruvate kinase. The effect of preincubation, pH, copper ions, fructose 1,6-diphosphate and dietary changes on enzyme activity

E Bailey

Biochemical Journal, 1968

The clinical spectrum of pyruvate kinase deficiency: data from the Pyruvate Kinase Deficiency Natural History Study

Rachael Grace

Blood, 2018

Interference and blood sample preparation for a pyruvate enzymatic assay

Chun Yan Yeung

Clinical Biochemistry, 2006

Study of the Molecular Defects in Pyruvate Kinase Deficient Patients Affected by Nonspherocytic Hemolytic Anemia

Kunle Adekile

Blood Cells Molecules and Diseases, 1995

Red cell pyruvate kinase deficiency in Southern Sardinia.

Stefania Satta

Assays of Pyruvate Dehydrogenase Complex and Pyruvate Carboxylase Activity

Douglas Kerr

Methods in Molecular Biology, 2011

Multicenter Study of Pyruvate Kinase Deficiency in Argentina

Alberto Lazarowski

Journal of Hematology Research

Pyruvate kinase-deficiency anemia: Membrane approach

Petr Jarolim

Biochemical Medicine and Metabolic Biology, 1988

Pyruvate kinase synthesis and degradation by normal and pathologic cells during erythroid maturation

daniel rotten

Blood, 1988

Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency

Tabita Maia

American Journal of Hematology

Disorders of pyruvate metabolism and the tricarboxylic acid cycle

มานพ พิทักษ์ภากร

The effect of storage on the kinetic properties of sheep hepatic pyruvate kinase

Levent Kayrın

Biochemical Medicine and Metabolic Biology, 1986

Hormone-Induced Changes in Pyruvate Kinase. Effects of Glucagon and Starvation

European Journal of Biochemistry, 1977

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

Fethi Mellouli

Egyptian Journal of Medical Human Genetics, 2016