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Fingerprint Fingerprint is based on mining the text of the person's scientific documents to create an index of weighted terms, which defines the key subjects of each individual researcher.

  • 19 Similar Profiles
Mutation Medicine & Life Sciences
Hemolytic Anemia Medicine & Life Sciences
Pyruvate Kinase Medicine & Life Sciences
Genes Medicine & Life Sciences
Enzymes Medicine & Life Sciences
Congenital Hemolytic Anemia Medicine & Life Sciences
Hereditary Spherocytosis Medicine & Life Sciences
Congenital Dyserythropoietic Anemia Medicine & Life Sciences

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Research Output 1996 2019

  • 1517 Citations
  • 21 h-Index
  • 91 Article
  • 3 Letter
  • 1 Chapter
  • 1 Comment/debate

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

with the endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, 2019, In : American Journal of Hematology. 94, 1, p. 149-161

Research output: Contribution to journalArticle

Congenital Hemolytic Anemia
Workflow
Enzyme Assays
Glycolysis
Pyruvate Kinase Deficiency of Red Cells

A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated with Pyrimidine-5′-Nucleotidase Deficiency: A Case Report

Köker, S. A., Oymak, Y., Bianchi, P., Fermo, E., Karapinar, T. H., Gözmen, S., Ay, Y. & Vergin, R. C., Jan 1 2019, In : Journal of Pediatric Hematology/Oncology.

Research output: Contribution to journalArticle

5'-Nucleotidase
Mutation
Genes
Spherocytes
Erythrocytes

A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency

Aydin Köker, S., Oymak, Y., Bianchi, P., Gözmen, S., Karapinar, T. H., Fermo, E. & Vergin, R. C., 2019, In : Journal of Pediatric Hematology/Oncology. 41, 1, p. e1-e2

Research output: Contribution to journalArticle

Hemolysis
Diagnostic Errors
Hemolytic Anemia
Fathers
Genes
1 Citation (Scopus)

A novel gain-of-function mutation of Piezo1 is functionally affirmed in red blood cells by high-throughput patch clamp

Rotordam, M. G., Fermo, E., Becker, N., Barcellini, W., Brüggemann, A., Fertig, N., Egée, S., Rapedius, M., Bianchi, P. & Kaestner, L., May 1 2019, In : Haematologica. 104, 5, p. e179-e183

Research output: Contribution to journalLetter

Open Access

Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation

Barcellini, W., Zaninoni, A., Gregorini, A. I., Soverini, G., Duca, L., Fattizzo, B., Giannotta, J. A., Pedrotti, P., Vercellati, C., Marcello, A. P., Fermo, E., Bianchi, P. & Cappellini, M. D., May 1 2019, In : British Journal of Haematology. 185, 3, p. 523-531 9 p.

Research output: Contribution to journalArticle

Congenital Hemolytic Anemia
Hepcidins
Iron Overload
Transferrin
Ferritins