Nonspherocytic Haemolytic Anaemia with Increased Red Cell Adenine Nucleotides, Glutathione and Basophilic Stippling and Ribosephosphate Pyrophosphokinase (RPK) Deficiency: Studies on Two New Kindreds

No abstract is available for this paper.

• Publication year

  1973

• Venue

  British Journal of Haematology

• Publication date

  1973-02-01

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1111/j.1365-2141.1973.tb05736.xPMID 4713623
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Studies on human erythrocyte nucleotide metabolism. I. Monisotopic methodologies.

  1972cited by this paper
• Studies on human erythrocyte nucleotide metabolism. II. Nonspherocytic hemolytic anemia, high red cell ATP, and ribosephosphate pyrophosphokinase (RPK, E.C.2.7.6.1) deficiency.

  1972cited by this paper
• Phosphoribosylpyrophosphate in man: biochemical and clinical significance.

  1971cited by this paper
• Erythrocyte glyoxalase II deficiency with coincidental hereditary elliptocytosis.

  1970cited by this paper
• [Excessive erythrocyte ATP level feature of a hereditary nonspherocytic hemolytic anemia in disturbed ATP utilization and a red cell metabolic anomaly without disease value].

  1970cited by this paper
• [Hereditary nonspherocytic hemolytic anemia with high erythrocyte ATP].

  1969cited by this paper
• Regulation of the synthesis of 5-phosphoribosyl-I-pyrophosphate in intact red blood cells and in cell-free preparations.

  1969cited by this paper
• Biochemical Methods in Red Cell Genetics

  1969cited by this paper
• Hereditary hemolytic anemia associated with glucosephosphate isomerase (GPI) deficiency--a new enzyme defect of human erythrocytes.

  1968cited by this paper
• Sodium-potssum tmulated ATPase activity of mammalian hemolysates: clinical observations and ominance of ATPase deficiency in the potassium polymorphism of sheep.

  1968cited by this paper
• Hereditary hemolytic anemia with hexokinase deficiency. Role of hexokinase in erythrocyte aging.

  1967cited by this paper
• The adenylate kinase of human plasma, erythrocytes and platelets in relation to the degradation of adenosine diphosphate in plasma.

  1967cited by this paper
• Studies on the quantitative and qualitative characterization of erythrocyte glutathione peroxidase.

  1967cited by this paper
• Hereditary high ATP content of human erythrocytes.

  1965cited by this paper
• HEREDITARY HEMOLYTIC ANEMIA WITH TRIOSEPHOSPHATE ISOMERASE DEFICIENCY.

  1965cited by this paper
• GENETIC AND BIOCHEMICAL STUDIES ON 5′-NUCLEOTIDE FERMENTATION:II. REPRESSION OF ENZYME FORMATION IN PURINE NUCLEOTIDE BIOSYNTHESIS IN BACILLUS SUBTILIS AND DERIVATION OF DEREPRESSED MUTANTS

  1965cited by this paper
• Studies on erythrocyte glycolysis. I. Determination of the glycolytic intermediates in human erythrocytes.

  1965cited by this paper
• A NEW INHERITED ABNORMALITY OF HUMAN ERYTHROCYTES: ELEVATED ERYTHROCYTIC ADENOSINE TRIPHOSPHATE.

  1965cited by this paper
• 2,3-PGase-Mangel als mögliche Ursache erhöhten ATP-Gehaltes

  1964cited by this paper
• STUDIES ON CHROMATED ERYTHROCYTES. EFFECT OF SODIUM CHROMATE ON ERYTHROCYTE GLUTATHIONE REDUCTASE.

  1964cited by this paper
• GENETIC AND BIOCHEMICAL STUDIES ON 5′-NUCLEOTIDE FERMENTATION

  1964cited by this paper
• Improved method for the determination of blood glutathione.

  1963cited by this paper
• The enzymatic synthesis of 5-fluorouridine 5'-phosphate.

  1959cited by this paper
• Congenital nonspherocytic hemolytic anemia; two nonfamilial cases with red cell survival studies.

  1956cited by this paper
• Enzymatic synthesis of pyrimidine nucleotides; orotidine-5'-phosphate and uridine-5'-phosphate.

  1955cited by this paper
• Autohemolysis and other changes resulting from the incubation in vitro of red cells from patients with congenital hemolytic anemia.

  1954cited by this paper
• Nonspherocytic chronic hemolytic anemia with basophilic stippling: report of a case in a Negro.

  1951cited by this paper
• A NEW TYPE OF HEREDITARY HEMOLYTIC JAUNDICE WITHOUT SPHEROCYTOSIS

  1947cited by this paper

• Novel homozygous nonsense mutation in the P5′N‐1 coding gene as an alternative cause for hereditary anemia with basophilic stippling

  2022cites this paper
• deficiency nucleotidase ' Genetic basis of hemolytic anemia caused by pyrimidine 5

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• with pyrimidine nucleotidase deficiency Identification of cytidine diphosphodiesters in erythrocytes from a patient

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• Cytosolic 5′-nucleotidase III (NT5C3): gene sequence variation and functional genomics

  2009cites this paper
• Erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of 2 new cases, with a review of the literature.

  2009cites this paper
• Hereditary pyrimidine 5′‐nucleotidase deficiency: from genetics to clinical manifestations

  2006cites this paper
• A Family With Red Cell Pyrimidine Deficiency

  2005cites this paper
• Advances in hereditary red cell enzyme anomalies

  2004cites this paper
• Pyrimidine 5'‐nucleotidase activities detected in real samples by means of micellar electrokinetic chromatography

  2004cites this paper
• Pyrimidine 5′ Nucleotidase Deficiency

  2003cites this paper
• Molecular characterization of Turkish patients with pyrimidine

  2003cites this paper
• Molecular characterization of Turkish patients with pyrimidine 5' nucleotidase-I deficiency.

  2003cites this paper
• Human erythrocyte pyrimidine 5'-nucleotidase, PN-I.

  2002cites this paper
• Genetic basis of hemolytic anemia caused by pyrimidine 5 9 nucleotidase deficiency

  2001cites this paper
• Genetic basis of hemolytic anemia caused by pyrimidine 5' nucleotidase deficiency.

  2001cites this paper
• Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.

  2000cites this paper
• Chronic non-spherocytic haemolytic anaemia due to congenital pyrimidine 5' nucleotidase deficiency: 25 years later.

  2000cites this paper
• Interaction of hemoglobin E and pyrimidine 5' nucleotidase deficiency.

  1996cites this paper
• NMR Studies of Erythrocyte Metabolism

  1995cites this paper
• Störungen des Pyrimidinstoffwechsels

  1990cites this paper
• Localization of human phosphoribosylpyrophosphate synthetase subunit I and II genes (PRPS1 and PRPS2) to different regions of the X chromosome and assignment of two PRPS1-related genes to autosomes

  1989cites this paper
• Decreased erythrocyte phosphoribosylpyrophosphate synthetase activity and impaired formation in thalassemia minor: a mechanism for decreased adenine nucleotide content.

  1989cites this paper
• Pyrimidine nucleotides impair phosphoribosylpyrophosphate (PRPP) synthetase subunit aggregation by sequestering magnesium. A mechanism for the decreased PRPP synthetase activity in hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency.

  1989cites this paper
• Erythrocyte pyrimidine 5'-nucleotidase and deoxynucleotidase isozymes: metallosensitivity and kinetics.

  1988cites this paper
• Detection of pyrimidine 5′-nucleotidase deficiency using1H-or31P-nuclear magnetic resonance

  1986cites this paper
• Adenosine uptake in pyrimidine 5′-nucleotidase deficient human erythrocytes via a high affinity transport system

  1985cites this paper
• Pyrimidine nucleotides do not affect the enzymes of glutathione biosynthesis.

  1985cites this paper
• Identification of cytidine diphosphodiesters in erythrocytes from a patient with pyrimidine nucleotidase deficiency.

  1984cites this paper
• Isolation of a Chinese Hamster Cell Mutant with Low Intracellular Phosphoribosylpyrophosphate Concentration

  1982cites this paper
• Red cell enzymopathies in the newborn. II. Inherited deficiencies of red cell enzymes.

  1982cites this paper
• Hemolytic anemia in hereditary pyrimidine 5'-nucleotidase deficiency: nucleotide inhibition of G6PD and the pentose phosphate shunt.

  1982cites this paper
• [Red cell enzyme deficiencies - clinical manifestation and pathophysiology (author's transl)].

  1981cites this paper
• Erythrocyte enzymopathies in the newborn.

  1981cites this paper
• HPLC analysis of erythrocyte pyrimidine-5'-nucleotidase inhibition by lead.

  1981cites this paper
• A case of hemolytic anemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency.

  1981cites this paper
• Hereditary haemolytic anaemia due to red cell pyrimidine 5'-nucleotidase deficiency in two Irish families with a note on the benefit of splenectomy.

  1981cites this paper
• Additional data from two kindreds with genetically induced deficiencies of erythrocyte pyrimidine nucleotidase.

  1980cites this paper
• Hemolytic anemia due to pyrimidine-5'-nucleotidase deficiency: report of eight cases in six families.

  1980cites this paper
• Erythrocyte Pyrimidine 5′‐Nucleotidase

  1980cites this paper
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  1980cites this paper
• Distribution of Erythrocyte Nucleotides in Pyrimidine 5′‐Nucleotidase Deficiency

  1979cites this paper
• Hemolytic Anemia due to Other Enzyme Deficiencies

  1978cites this paper
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  1978cites this paper
• Haemolytic anaemia due to erythrocyte pyrimidine 5'-nucleotidase deficiency. Report of the first South African family.

  1977cites this paper
• Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man. Studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme.

  1977cites this paper
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  1977cites this paper
• Superactivity of phosphoribosylpyrophosphate synthetase, due to feedback resistance, causing purine overproduction and gout.

  1977cites this paper
• A family with red cell pyrimidine 5'-nucleotidase deficiency.

  1976cites this paper
• Hereditary hemolytic anemia with erythrocyte pyrimidine 5′-nucleotidase deficiency in Spain

  1976cites this paper
• Effects of low-level lead exposure on pyrimidine 5'-nucleotidase and other erythrocyte enzymes. Possible role of pyrimidine 5'-nucleotidase in the pathogenesis of lead-induced anemia.

  1975cites this paper
• Human phosphoribosylpyrophosphate synthetase. Comparison of purified normal and mutant enzymes.

  1975cites this paper
• Characteristics of a pyrimidine-specific 5'-nucleotidase in human erythrocytes.

  1975cites this paper
• Metabolism of human erythrocytes. Studies in health and disease.

  1975cites this paper
• Hypouricemic, mentally retarded infant with a defect of 5-phosphoribosyl-1-pyrophosphate synthetase of erythrocytes.

  1974cites this paper
• Hereditary hemolytic anemia with human erythrocyte pyrimidine 5'-nucleotidase deficiency.

  1974influential citation
• Hemolysis in the newborn infant resulting from deficiencies of red blood cell enzymes: diagnosis and management.

  1974cites this paper