1. A Case With Pyruvate Kinase Deficiency Remarkably Sensitive to Heat. Issue 7 (October 2018) Authors: Aksu, Tekin; Yarali, Neşe; Fermo, Elisa; Marcello, Anna; Hacisalihoğlu, Şadan; Bianchi, Paola; Özbek, Namik Y. Journal: Journal of pediatric hematology/oncology Issue: Volume 40:Issue 7(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
2. 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. Issue 8 (November 2019) Authors: Köker, Sultan A.; Oymak, Yeşim; Bianchi, Paola; Fermo, Elisa; Karapinar, Tuba H.; Gözmen, Salih; Ay, Yilmaz; Vergin, Raziye C. Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 8(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
3. A New Variant of PKLR Gene Associated With Mild Hemolysis may be Responsible for the Misdiagnosis in Pyruvate Kinase Deficiency. Issue 1 (January 2019) Authors: Aydin Köker, Sultan; Oymak, Yeşim; Bianchi, Paola; Gözmen, Salih; Karapinar, Tuba H.; Fermo, Elisa; Vergin, Raziye C. Journal: Journal of pediatric hematology/oncology Issue: Volume 41:Issue 1(2019) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
4. Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency. Issue 1 (28th November 2018) Authors: Bianchi, Paola; Fermo, Elisa; Glader, Bertil; Kanno, Hitoshi; Agarwal, Archana; Barcellini, Wilma; Eber, Stefan; Hoyer, James D.; Kuter, David J.; Maia, Tabita Magalhães; Mañu‐Pereira, Maria del Mar; Kalfa, Theodosia A.; Pissard, Serge; Segovia, José‐Carlos; van Beers, Eduard; Gallagher, Patrick ... Journal: American journal of hematology Issue: Volume 94:Issue 1(2019:Jan.) Page Start: 149 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
5. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype‐phenotype correlations. (29th July 2016) Authors: Bianchi, Paola; Schwarz, Klaus; Högel, Josef; Fermo, Elisa; Vercellati, Cristina; Grosse, Regine; van Wijk, Richard; van Zwieten, Rob; Barcellini, Wilma; Zanella, Alberto; Heimpel, Hermann Journal: British journal of haematology Issue: Volume 175:Number 4(2016) Page Start: 696 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
6. Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years. (11th March 2022) Authors: Vercellati, Cristina; Zaninoni, Anna; Marcello, Anna P.; Fermo, Elisa; Fattizzo, Bruno; Giannotta, Juri A.; Bianchi, Paola; Zanella, Alberto; Barcellini, Wilma Journal: British journal of haematology Issue: Volume 198:Number 5(2022) Page Start: 912 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
7. Detection of red blood cell antibodies in mitogen‐stimulated cultures from patients with hereditary spherocytosis. Issue 12 (10th August 2015) Authors: Zaninoni, Anna; Vercellati, Cristina; Imperiali, Francesca G.; Marcello, Anna P.; Fattizzo, Bruno; Fermo, Elisa; Bianchi, Paola; Grossi, Claudia; Cattaneo, Alessandra; Cortelezzi, Agostino; Zanella, Alberto; Barcellini, Wilma Journal: Transfusion Issue: Volume 55:Issue 12(2015) Page Start: 2930 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
8. Genotype‐phenotype correlation and molecular heterogeneity in pyruvate kinase deficiency. Issue 5 (6th March 2020) Authors: Bianchi, Paola; Fermo, Elisa; Lezon‐Geyda, Kimberly; van Beers, Eduard J.; Morton, Holmes D.; Barcellini, Wilma; Glader, Bertil; Chonat, Satheesh; Ravindranath, Yaddanapudi; Newburger, Peter E.; Kollmar, Nina; Despotovic, Jenny M.; Verhovsek, Madeleine; Sharma, Mukta; Kwiatkowski, Janet L.; Kuo, ... Journal: American journal of hematology Issue: Volume 95:Issue 5(2020:May) Page Start: 472 Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
9. Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families. (6th March 2017) Authors: Fermo, Elisa; Vercellati, Cristina; Marcello, Anna Paola; Zaninoni, Anna; van Wijk, Richard; Mirra, Nadia; Curcio, Cristina; Cortelezzi, Agostino; Zanella, Alberto; Barcellini, Wilma; Bianchi, Paola Other Names: Tiu Ramon Academic Editor. Journal: Case reports in hematology Issue: Volume 2017(2017) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗
10. Identification of a Novel Mutation in the SEC23B Gene Associated With Congenital Dyserythropoietic Anemia Type II Through the Use of Next-generation Sequencing Panel in an Undiagnosed Case of Nonimmune Hereditary Hemolytic Anemia. Issue 7 (October 2018) Authors: Aydin Koker, Sultan; Karapinar, Tuba H.; Oymak, Yeşim; Bianchi, Paola; Fermo, Elisa; Gozmen, Salih; Vergin, Canan Journal: Journal of pediatric hematology/oncology Issue: Volume 40:Issue 7(2018) Page Start: Record Type: Journal Article View Content: Available online (eLD content is only available in our Reading Rooms) ↗