Literature DB >> 27342114

Congenital dyserythropoietic anemia associated to a GATA1 mutation aggravated by pyruvate kinase deficiency.

Janet Pereira1, Celeste Bento2, Licinio Manco1, Ataulfo Gonzalez3, Jose Vagace4, Maria Letícia Ribeiro1.   

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Year:  2016        PMID： 27342114     DOI： 10.1007/s00277-016-2720-0

Source DB:  PubMed          Journal:  Ann Hematol        ISSN： 0939-5555            Impact factor:   3.673


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  4 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

2.  Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

Authors:  Kerstin Jurk; Anke Adenaeuer; Stefanie Sollfrank; Kathrin Groß; Friederike Häuser; Andreas Czwalinna; Josef Erkel; Nele Fritsch; Dana Marandiuc; Martin Schaller; Karl J Lackner; Heidi Rossmann; Frauke Bergmann
Journal:  Cells       Date:  2022-09-29       Impact factor: 7.666

3.  Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

Authors:  Elisa Fermo; Cristina Vercellati; Anna Paola Marcello; Ebru Yilmaz Keskin; Silverio Perrotta; Anna Zaninoni; Valentina Brancaleoni; Alberto Zanella; Juri A Giannotta; Wilma Barcellini; Paola Bianchi
Journal:  Front Physiol       Date:  2021-05-21       Impact factor: 4.566

Review 4.  Molecular heterogeneity of pyruvate kinase deficiency.

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

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