242 results on '"Vercellati, Cristina"'
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2. Glycolytic activity and in vitro effect of the pyruvate kinase activator AG‐946 in red blood cells from low‐risk myelodysplastic syndromes patients: A proof‐of‐concept study
3. Cytokine polymorphisms in patients with autoimmune hemolytic anemia
4. When alpha spectrin null alleles meet low expression alpha spectrin polymorphisms
5. PB1990: GLYCOLYTIC ACTIVITY AND EFFECT OF EX-VIVO TREATMENT WITH THE PYRUVATE KINASE (PK) ACTIVATOR AG-946 IN RED BLOOD CELLS FROM LOW-RISK MYELODYSPLASTIC SYNDROMES PATIENTS: A PROOF-OF-CONCEPT STUDY
6. PB2546: DIAGNOSTIC POWER OF ERYTHROCYTE AND RETICULOCYTE AUTOMATIC PARAMETERS IN THE SCREENING FOR CONGENITAL HEMOLYTIC ANEMIAS
7. Overhydrated hereditary stomatocytosis: A rare cause of familiar persistent macrocytosis due to SLC4A1 variants
8. Glycolytic Activity and in Vitro Effect of the Pyruvate Kinase Activator AG-946 in Red Blood Cells from Low-Risk Myelodysplastic Syndromes Patients: A Proof-of-Concept Study
9. Case report: Transfusion independence and abolition of extravascular hemolysis in a PNH patient treated with pegcetacoplan
10. Evaluation of the Main Regulators of Systemic Iron Homeostasis in Pyruvate Kinase Deficiency
11. Evaluation of Red Blood Cell Metabolism in Patients with Low-Risk Myelodysplastic Syndrome (LR-MDS): A Proof-of-Concept Study
12. Repetitive reddish discoloration of the urine in an adolescent female following short-distance walking on a smooth road: Answers
13. Pyruvate Kinase Deficiency: Current Challenges and Future Prospects
14. Effect of primary lesions in cytoskeleton proteins on red cell membrane stability in patients with hereditary spherocytosis
15. A new variant of phosphoglycerate kinase deficiency (p.I371K) with multiple tissue involvement: Molecular and functional characterization
16. Changing trends of splenectomy in hereditary spherocytosis: The experience of a reference Centre in the last 40 years
17. CDAII presenting as hydrops foetalis: Molecular characterization of two cases
18. Repetitive reddish discoloration of urine in a female adolescent following short-distance walking on a smooth road: Questions
19. Detection of red blood cell antibodies in mitogen-stimulated cultures from patients with hereditary spherocytosis
20. Biochemical and Metabolomic Analysis of Glycolytic Activity in Red Blood Cells from Low-Risk Myelodysplastic Syndromes (LR-MDS) Patients and in-Vitro Effect of the Pyruvate Kinase Activator AG-946
21. Recessive hereditary methemoglobinemia: Two novel mutations in the NADH-cytochrome b5 reductase gene
22. Targeted Next Generation Sequencing and Diagnosis of Congenital Hemolytic Anemias: A Three Years Experience Monocentric Study
23. Screening tools for hereditary hemolytic anemia: new concepts and strategies
24. An unusual febrile nonhemolytic reaction occurred after transfusion in a thalassemia major patient with asymptomatic Plasmodium falciparum infection
25. Congenital Hemolytic Anemias: Is There a Role for the Immune System?
26. How will next generation sequencing (NGS) improve the diagnosis of congenital hemolytic anemia?
27. Triose phosphate isomerase deficiency associated with two novel mutations in TPI gene
28. Congenital Dyserythropoietic Anemia Type II (CDAII) is Caused by Mutations in the SEC23B Gene
29. Cellular Properties of Human Erythrocytes Preserved in Saline-Adenine-Glucose-Mannitol in the Presence of L-Carnitine
30. Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene
31. A new variant of adenylate kinase (delG138) associated with severe hemolytic anemia
32. Molecular characterization of six unrelated Italian patients affected by pyrimidine 5′-nucleotidase deficiency
33. Molecular characterization of the PK-LR gene in sixteen pyruvate kinase-deficient patients
34. A case of complete adenylate kinase deficiency due to a nonsense mutation in AK-1 gene (Arg 107 [arrow right] Stop, CGA [arrow right] TGA) associated with chronic haemolytic anaemia
35. Clinical and Molecular Spectrum of Glucose-6-Phosphate Isomerase Deficiency. Report of 12 New Cases
36. Iron overload in congenital haemolytic anaemias: role of hepcidin and cytokines and predictive value of ferritin and transferrin saturation
37. A variant of the EPB3 gene of the anti-Lepore type in hereditary spherocytosis
38. Iron Status and HFE Genotype in Erythrocyte Pyruvate Kinase Deficiency: Study of Italian Cases
39. Cell age-related monovalent cations content and density changes in stored human erythrocytes
40. Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias
41. Use of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) in the Diagnosis of RBC Membrane Disorders, Enzyme Defects, and Congenital Dyserythropoietic Anemias: A Monocentric Study on 202 Patients
42. Hereditary Xerocytosis due to Mutations in PIEZO1 Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
43. ‘Gardos Channelopathy’: a variant of hereditary Stomatocytosis with complex molecular regulation
44. Cyanosis Due to Methemoglobinemia Induced by Topical Anesthesia in a Premature Infant
45. Gardos Channelopathy: a variant of hereditary Stomatocytosis with complex molecular regulation
46. Hereditary Xerocytosis due to Mutations inPIEZO1Gene Associated with Heterozygous Pyruvate Kinase Deficiency and Beta-Thalassemia Trait in Two Unrelated Families
47. Iron Overload and Cytokine Serum Levels in Congenital Hemolytic Anemias
48. Analysis of a cohort of 101 CDAII patients: description of 24 new molecular variants and genotype-phenotype correlations
49. Cyanosis in a premature infant induced by topical anesthesia
50. Diagnostic Power of Laser Assisted Optical Rotational Cell Analyzer (LoRRca MaxSis) Evaluated in 118 Patients Affected By Hereditary Hemolytic Anemias
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