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

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Research Output 1996 2019

  • 1456 Citations
  • 21 h-Index
  • 88 Article
  • 2 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
Enzyme Assays
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

Diagnostic Errors
Hemolytic Anemia

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
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