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Fingerprint Dive into the research topics where Elisa Fermo is active. These topic labels come from the works of this person. Together they form a unique fingerprint.

  • 11 Similar Profiles
Mutation Medicine & Life Sciences
Hemolytic Anemia Medicine & Life Sciences
Genes Medicine & Life Sciences
5'-Nucleotidase Medicine & Life Sciences
Congenital Dyserythropoietic Anemia Medicine & Life Sciences
Enzymes Medicine & Life Sciences
Paroxysmal Hemoglobinuria Medicine & Life Sciences
Pyruvate Kinase Medicine & Life Sciences

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Research Output 2000 2019

  • 1268 Citations
  • 19 h-Index
  • 66 Article
  • 1 Letter
  • 1 Review article
3 Citations (Scopus)

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, Bianchi, P., Fermo, E., Glader, B., Kanno, H., Agarwal, A., Barcellini, W., Eber, S., Hoyer, J. D., Kuter, D. J., Maia, T. M., Mañu-Pereira, M. D. M., Kalfa, T. A., Pissard, S., Segovia, J. C., van Beers, E., Gallagher, P. G., Rees, D. C. & van Wijk, R., 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., 2019, In : Journal of Pediatric Hematology/Oncology. 41, 8, p. e484-e486

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
3 Citations (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
1 Citation (Scopus)

Clinical and molecular spectrum of glucose-6-phosphate isomerase deficiency. Report of 12 new cases

Fermo, E., Vercellati, C., Marcello, A. P., Zaninoni, A., Aytac, S., Cetin, M., Capolsini, I., Casale, M., Paci, S., Zanella, A., Barcellini, W. & Bianchi, P., Jan 1 2019, In : Frontiers in Physiology. 10, MAY, 467.

Research output: Contribution to journalArticle

Open Access
Glucose-6-Phosphate Isomerase
Mutation
Glycolysis
Anemia
Glucose-6-Phosphate