Cited by

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

  Bianchi P, Fermo E, Glader B, Kanno H, Agarwal A, Barcellini W, Eber S, Hoyer JD, Kuter DJ, Maia TM, Mañu-Pereira MDM, Kalfa TA, Pissard S, Segovia JC, van Beers E, Gallagher PG, Rees DC, van Wijk R; with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases. Bianchi P, et al. Am J Hematol. 2019 Jan;94(1):149-161. doi: 10.1002/ajh.25325. Epub 2018 Nov 28. Am J Hematol. 2019. PMID: 30358897 Free PMC article.
• Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study.

  Fermo E, Vercellati C, Marcello AP, Keskin EY, Perrotta S, Zaninoni A, Brancaleoni V, Zanella A, Giannotta JA, Barcellini W, Bianchi P. Fermo E, et al. Front Physiol. 2021 May 21;12:684569. doi: 10.3389/fphys.2021.684569. eCollection 2021. Front Physiol. 2021. PMID: 34093240 Free PMC article.
• Novel GATA1 Variant Causing a Bleeding Phenotype Associated with Combined Platelet α-/δ-Storage Pool Deficiency and Mild Dyserythropoiesis Modified by a SLC4A1 Variant.

  Jurk K, Adenaeuer A, Sollfrank S, Groß K, Häuser F, Czwalinna A, Erkel J, Fritsch N, Marandiuc D, Schaller M, Lackner KJ, Rossmann H, Bergmann F. Jurk K, et al. Cells. 2022 Sep 29;11(19):3071. doi: 10.3390/cells11193071. Cells. 2022. PMID: 36231035 Free PMC article.
• A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger.

  Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B. Bastida JM, et al. Cells. 2022 Oct 14;11(20):3223. doi: 10.3390/cells11203223. Cells. 2022. PMID: 36291092 Free PMC article.
• Molecular heterogeneity of pyruvate kinase deficiency.

  Bianchi P, Fermo E. Bianchi P, et al. Haematologica. 2020 Sep 1;105(9):2218-2228. doi: 10.3324/haematol.2019.241141. Haematologica. 2020. PMID: 33054047 Free PMC article. Review.