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Literature DB >> 157322

Advances in hereditary red cell enzyme anomalies.

A Kahn, J C Kaplan, J C Dreyfus.

Abstract

Entities: Disease

Mesh：

Substances：

Year: 1979 PMID： 157322 DOI： 10.1007/bf00295584

Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132

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140 in total

1. Studies on methemoglobin reductase. Immunochemical similarity of soluble methemoglobin reductase and cytochrome b5 of human erythrocytes with NADH-cytochrome b5 reductase and cytochrome b5 of rat liver microsomes.

Authors: F Kuma; R A Prough; B S Masters
Journal: Arch Biochem Biophys Date: 1976-02 Impact factor: 4.013

2. Triose phosphate isomerase deficiency.

Authors: H Skala; J C Dreyfus; J L Vives-Corrons; F Matsumoto; E Beutler
Journal: Biochem Med Date: 1977-10

3. Nonspherocytic haemolytic anaemia with increased red cell adenine nucleotides, glutathione and basophilic stippling and ribosephosphate pyrophosphokinase (RPK) deficiency: studies on two new kindreds.

Authors: W N Valentine; J M Bennett; W Krivit; P N Konrad; J T Lowman; D E Paglia; C J Wakem
Journal: Br J Haematol Date: 1973-02 Impact factor: 6.998

4. A point mutation increasing the stability of human phosphoglucose isomerase.

Authors: B E Tilley; R W Gracy; S G Welch
Journal: J Biol Chem Date: 1974-07-25 Impact factor: 5.157

5. Soluble and microsomal forms of NADH-cytochrome beta 5 reductase from human placenta. Similarity with NADH-methemoglobin reductase from human erythrocytes.

Authors: A Leroux; L Torlinski; J C Kaplan
Journal: Biochim Biophys Acta Date: 1977-03-15

6. Characterization of pyruvate kinase from the liver of a patient with aberrant erythrocyte pyruvate kinase, PK Nagasaki.

Authors: K Nakashima; S Miwa; H Fujii; K Shinohara; K Yamauchi; Y Tsuji; M Yanai
Journal: J Lab Clin Med Date: 1977-12

7. [Hexokinase deficiency in blood cells in a group of kin with familial panmyelopathy (Fanconi type)].

Authors: G W Löhr; H D Waller; F Anschütz; A Knopp
Journal: Klin Wochenschr Date: 1965-08-15

8. Lead poisoning: association with hemolytic anemia, basophilic stippling, erythrocyte pyrimidine 5'-nucleotidase deficiency, and intraerythrocytic accumulation of pyrimidines.

Authors: W N Valentine; D E Paglia; K Fink; G Madokoro
Journal: J Clin Invest Date: 1976-10 Impact factor: 14.808

9. Triosephosphate isomerase deficiency with hemolytic anemia and severe neuromuscular disease: familial and biochemical studies of a case found in Spain.

Authors: J L Vives-Corrons; H Rubinson-Skala; M Mateo; J Estella; E Feliu; J C Dreyfus
Journal: Hum Genet Date: 1978-06-09 Impact factor: 4.132

10. Human erythrocyte pyruvate kinase deficiency: the use of a kinetic study of mutant enzymes for the detection of heterozygotes.

Authors: E D Sprengers; J Marie; A Kahn; K Punt; G E Staal
Journal: Hum Genet Date: 1978-02-23 Impact factor: 4.132

9 in total

1. Characterization of a series of electrophoretic and enzyme activity variants of human glucose-phosphate isomerase.

Authors: H W Mohrenweiser; P T Wade; K H Wurzinger
Journal: Hum Genet Date: 1987-01 Impact factor: 4.132

2. Pyruvate kinase "Göttingen 1,2": congenital hemolytic anemia, evidence of double heterozygosity, and lack of enzyme cooperativity.

Authors: W Schröter; M Lakomek; M Scharnetzky; W Tillmann; H Winkler
Journal: Hum Genet Date: 1982 Impact factor: 4.132

3. Search for a relationship between molecular anomalies of the mutant erythrocyte pyruvate kinase variants and their pathological expression.

Authors: A Kahn; J Marie; J L Vives-Corrons; P Maigret; A Najman
Journal: Hum Genet Date: 1981 Impact factor: 4.132

4. Functional hemizygosity in the human genome: direct estimate from twelve erythrocyte enzyme loci.

Authors: H W Mohrenweiser
Journal: Hum Genet Date: 1987-11 Impact factor: 4.132

5. An allele (Pk-1b) from wild-caught mice that affects the activity and kinetics of erythrocyte and liver pyruvate kinase.

Authors: K J Moore; G Bulfield
Journal: Biochem Genet Date: 1981-08 Impact factor: 1.890

6. Origin of the triosephosphate isomerase isozymes in humans: genetic evidence for the expression of a single structural locus.

Authors: R S Decker; H W Mohrenweiser
Journal: Am J Hum Genet Date: 1981-09 Impact factor: 11.025