Literature DB >> 41566

Recommended methods for the characterization of red cell pyruvate kinase variants. International Committee for Standardization in Haematology.

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Year:  1979        PMID: 41566     DOI: 10.1111/j.1365-2141.1979.tb03751.x

Source DB:  PubMed          Journal:  Br J Haematol        ISSN: 0007-1048            Impact factor:   6.998


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  12 in total

1.  Molecular study of pyruvate kinase deficient patients with hereditary nonspherocytic hemolytic anemia.

Authors:  L Baronciani; E Beutler
Journal:  J Clin Invest       Date:  1995-04       Impact factor: 14.808

2.  Erythrocyte pyruvate kinase deficiency: characterization of a new variant (PK "Aarau").

Authors:  M Lakomek; H Winkler; M Scharnetzky; W Tillmann; G Laier; H R Marti; W Schröter
Journal:  Blut       Date:  1984-03

3.  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

4.  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

5.  A red cell pyruvate kinase mutant with normal L-type PK in the liver.

Authors:  J Etiemble; C Picat; P Boivin
Journal:  Hum Genet       Date:  1982       Impact factor: 4.132

6.  In silico model-driven assessment of the effects of single nucleotide polymorphisms (SNPs) on human red blood cell metabolism.

Authors:  Neema Jamshidi; Sharon J Wiback; Bernhard Ø Palsson B
Journal:  Genome Res       Date:  2002-11       Impact factor: 9.043

7.  Analysis of pyruvate kinase-deficiency mutations that produce nonspherocytic hemolytic anemia.

Authors:  L Baronciani; E Beutler
Journal:  Proc Natl Acad Sci U S A       Date:  1993-05-01       Impact factor: 11.205

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

Authors:  Paola Bianchi; Elisa Fermo; Bertil Glader; Hitoshi Kanno; Archana Agarwal; Wilma Barcellini; Stefan Eber; James D Hoyer; David J Kuter; Tabita Magalhães Maia; Maria Del Mar Mañu-Pereira; Theodosia A Kalfa; Serge Pissard; José-Carlos Segovia; Eduard van Beers; Patrick G Gallagher; David C Rees; Richard van Wijk
Journal:  Am J Hematol       Date:  2018-11-28       Impact factor: 10.047

9.  Mutations in the R-type pyruvate kinase gene and altered enzyme kinetic properties in patients with hemolytic anemia due to pyruvate kinase deficiency.

Authors:  M Lakomek; P Huppke; B Neubauer; A Pekrun; H Winkler; W Schröter
Journal:  Ann Hematol       Date:  1994-11       Impact factor: 3.673

10.  Molecular lesion affecting the ADP-combining site in a mutant isozyme of erythrocyte pyruvate kinase.

Authors:  D E Paglia; W N Valentine
Journal:  Proc Natl Acad Sci U S A       Date:  1981-08       Impact factor: 11.205

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