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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.

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Research Output

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

  • 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

  • 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

  • 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

    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