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

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

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Research Output 1996 2019

  • 1643 Citations
  • 22 h-Index
  • 95 Article
  • 3 Letter
  • 1 Chapter
  • 1 Comment/debate
4 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
Enzyme Assays
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


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

Diagnostic Errors
Hemolytic Anemia
4 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