Literature DB >> 11186276

Prevalence of pyruvate kinase deficiency in northern European population in the north of England. Northern Region Haematologists Group.

P J Carey, J Chandler, A Hendrick, M M Reid, P W Saunders, H Tinegate, P R Taylor, N West.   

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Year:  2000        PMID： 11186276

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  16 in total

1.  Alu element insertion in PKLR gene as a novel cause of pyruvate kinase deficiency in Middle Eastern patients.

Authors:  Harry Lesmana; Lisa Dyer; Xia Li; James Denton; Jenna Griffiths; Satheesh Chonat; Katie G Seu; Matthew M Heeney; Kejian Zhang; Robert J Hopkin; Theodosia A Kalfa
Journal:  Hum Mutat       Date:  2018-01-11       Impact factor: 4.878

2.  Red cell pyruvate kinase deficiency in neonatal jaundice cases in India.

Authors:  Prabhakar S Kedar; Prashant Warang; Roshan B Colah; Dipika Mohanty
Journal:  Indian J Pediatr       Date:  2006-11       Impact factor: 1.967

3.  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

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.  Erythrocyte pyruvate kinase deficiency: 2015 status report.

Authors:  Rachael F Grace; Alberto Zanella; Ellis J Neufeld; D Holmes Morton; Stefan Eber; Hassan Yaish; Bertil Glader
Journal:  Am J Hematol       Date:  2015-08-14       Impact factor: 10.047

6.  Prevalence of pyruvate kinase deficiency: A systematic literature review.

Authors:  Matthew H Secrest; Mike Storm; Courtney Carrington; Deborah Casso; Keely Gilroy; Leanne Pladson; Audra N Boscoe
Journal:  Eur J Haematol       Date:  2020-06-23       Impact factor: 2.997

7.  Pyruvate kinase deficiency in sub-Saharan Africa: identification of a highly frequent missense mutation (G829A;Glu277Lys) and association with malaria.

Authors:  Patrícia Machado; Licínio Manco; Cláudia Gomes; Cristina Mendes; Natércia Fernandes; Graça Salomé; Luis Sitoe; Sérgio Chibute; José Langa; Letícia Ribeiro; Juliana Miranda; Jorge Cano; João Pinto; António Amorim; Virgílio E do Rosário; Ana Paula Arez
Journal:  PLoS One       Date:  2012-10-17       Impact factor: 3.240

Review 8.  Understanding the Causes and Implications of Endothelial Metabolic Variation in Cardiovascular Disease through Genome-Scale Metabolic Modeling.

Authors:  Sarah McGarrity; Haraldur Halldórsson; Sirus Palsson; Pär I Johansson; Óttar Rolfsson
Journal:  Front Cardiovasc Med       Date:  2016-04-18

9.  Development of the pyruvate kinase deficiency diary and pyruvate kinase deficiency impact assessment: Disease-specific assessments.

Authors:  Sam Salek; Audra N Boscoe; Sarah Piantedosi; Shayna Egan; Christopher J Evans; Ted Wells; Jennifer Cohen; Robert J Klaassen; Rachael Grace; Michael Storm
Journal:  Eur J Haematol       Date:  2020-02-24       Impact factor: 2.997

Review 10.  Molecular heterogeneity of pyruvate kinase deficiency.

Authors:  Paola Bianchi; Elisa Fermo
Journal:  Haematologica       Date:  2020-09-01       Impact factor: 9.941
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