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Literature DB >> 10772876

Hematologically important mutations: red cell pyruvate kinase (Third update).

P Bianchi¹, A Zanella.

Abstract

Mesh：

Substances：
Pyruvate Kinase

Year: 2000 PMID： 10772876 DOI： 10.1006/bcmd.2000.0276

Source DB: PubMed Journal: Blood Cells Mol Dis ISSN： 1079-9796 Impact factor: 3.039

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Cited

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5 in total

1. 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

Review 2. Erythrocyte disorders in the perinatal period.

Authors: Laurie A Steiner; Patrick G Gallagher
Journal: Semin Perinatol Date: 2007-08 Impact factor: 3.300

3. Rescue of pyruvate kinase deficiency in mice by gene therapy using the human isoenzyme.

Authors: Nestor W Meza; Maria E Alonso-Ferrero; Susana Navarro; Oscar Quintana-Bustamante; Antonio Valeri; Maria Garcia-Gomez; Juan A Bueren; Jose M Bautista; Jose C Segovia
Journal: Mol Ther Date: 2009-09-15 Impact factor: 11.454

4. Genotype-phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency.

Authors: Paola Bianchi; Elisa Fermo; Kimberly Lezon-Geyda; Eduard J van Beers; Holmes D Morton; Wilma Barcellini; Bertil Glader; Satheesh Chonat; Yaddanapudi Ravindranath; Peter E Newburger; Nina Kollmar; Jenny M Despotovic; Madeleine Verhovsek; Mukta Sharma; Janet L Kwiatkowski; Kevin H M Kuo; Marcin W Wlodarski; Hassan M Yaish; Susanne Holzhauer; Heng Wang; Joachim Kunz; Kathryn Addonizio; Hasan Al-Sayegh; Wendy B London; Oliver Andres; Richard van Wijk; Patrick G Gallagher; Rachael F F Grace
Journal: Am J Hematol Date: 2020-03-06 Impact factor: 10.047

Review 5. Pyruvate Kinase Deficiency: Current Challenges and Future Prospects.

Authors: Bruno Fattizzo; Francesca Cavallaro; Anna Paola Maria Luisa Marcello; Cristina Vercellati; Wilma Barcellini
Journal: J Blood Med Date: 2022-09-01

5 in total