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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.

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

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Research Output 2000 2019

  • 1134 Citations
  • 19 h-Index
  • 62 Article

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 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

A Case with Pyruvate Kinase Deficiency Remarkably Sensitive to Heat

Aksu, T., Yarali, N., Fermo, E., Marcello, A., Hacisalihoǧlu, Ş., Bianchi, P. & Özbek, N. Y., Oct 1 2018, In : Journal of Pediatric Hematology/Oncology. 40, 7, p. e458-e460

Research output: Contribution to journalArticle

Pyruvate Kinase
Hot Temperature
Congenital Hemolytic Anemia
Babesia
Glucuronosyltransferase
8 Citations (Scopus)

Clinical spectrum of pyruvate kinase deficiency: Data from the pyruvate kinase deficiency natural history study

Grace, R. F., Bianchi, P., van Beers, E. J., Eber, S. W., Glader, B., Yaish, H. M., Despotovic, J. M., Rothman, J. A., Sharma, M., McNaull, M. M., Fermo, E., Lezon-Geyda, K., Morton, D. H., Neufeld, E. J., Chonat, S., Kollmar, N., Knoll, C. M., Kuo, K., Kwiatkowski, J. L., Pospíšilová, D. & 20 othersPastore, Y. D., Thompson, A. A., Newburger, P. E., Ravindranath, Y., Wang, W. C., Wlodarski, M. W., Wang, H., Holzhauer, S., Breakey, V. R., Kunz, J., Sheth, S., Rose, M. J., Bradeen, H. A., Neu, N., Guo, D., Al-Sayegh, H., London, W. B., Gallagher, P. G., Zanella, A. & Barcellini, W., May 17 2018, In : Blood. 131, 20, p. 2183-2192 10 p.

Research output: Contribution to journalArticle

Pyruvate Kinase
Natural History
Splenectomy
Hemoglobins
Cholecystectomy
Congenital Dyserythropoietic Anemia
Congenital Hemolytic Anemia
Mutation
Genes
Anemia