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206 results on '"Alberto Piperno"'

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1. Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD)

2. Rhabdomyolysis after Intravenous Ferric Gluconate: A Case Report

3. Transfusional Approach in Multi-Ethnic Sickle Cell Patients: Real-World Practice Data From a Multicenter Survey in Italy

4. Mental well-being in patients with transfusion-dependent anemias and hemochromatosis during the SARS-CoV-2 pandemic

5. Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia

6. GNPAT rs11558492 is not a Major Modifier of Iron Status: Study of Italian Hemochromatosis Patients and Blood Donors

7. Aceruloplasminemia: Waiting for an Efficient Therapy

8. MYELODYSPLASTIC SYNDROMES AND IRON CHELATION THERAPY

9. CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients

10. Hepcidin expression in iron overload diseases is variably modulated by circulating factors.

11. A time course of hepcidin response to iron challenge in patients with HFE and TFR2 hemochromatosis

12. IRON METABOLISM IN THALASSEMIA AND SICKLE CELL DISEASE

13. Expression of hepcidin and other iron-related genes in type 3 hemochromatosis due to a novel mutation in transferrin receptor-2

14. Effects of plasma transfusion on hepcidin production in human congenital hypotransferrinemia

15. The use of esketamine in comorbid treatment resistant depression and obsessive compulsive disorder following extensive pharmacogenomic testing: a case report

16. BiallelicSTAB1pathogenic variants cause hereditary hyperferritinemia

17. Prolonged exposure to welding fumes as a novel cause of systemic iron overload

18. Italian patients with hemoglobinopathies exhibit a 5-fold increase in age-standardized lethality due to SARS-CoV-2 infection

19. Iron-mediated tissue damage in acquired ineffective erythropoiesis disease: It's more a matter of burden or more of exposure to toxic iron form?

20. Hereditary Hyperferritinemia

21. Identification of Novel Mutations by Targeted NGS Panel in Patients with Hyperferritinemia

22. Ferroportin disease: A novel SLC40A1 mutation

23. Different cortical excitability profiles in hereditary brain iron and copper accumulation

24. Possible Use of Minocycline in Adjunction to Intranasal Esketamine for the Management of Difficult to Treat Depression following Extensive Pharmacogenomic Testing: Two Case Reports

25. Mental Well-Being in Patients with Transfusion-Dependent Anemias and Hemochromatosis during the SARS-CoV-2 Pandemic

26. Ceruloplasmin variants might have different effects in different iron overload disorders

27. Thalassemia Is Paradoxically Associated with a Reduced Risk of In-Hospital Complications and Mortality in COVID-19: Data from an International Registry

28. A severe hemojuvelin mutation leading to late onset of HFE2 -hemochromatosis

29. Hepatocellular carcinoma in Gaucher disease: an international case series

30. Atypical phenotype in a patient with ceruloplasmin mutations in the compound heterozygous state

31. COVID 19 and Hemoglobinopathies: Update of the Italian Experience

32. Hyperferritinemia and diagnosis of type 1 Gaucher disease

33. The Natural History of Ferroportin Disease – First Results of the International, Multicenter non-HFE Registry

34. Unexplained isolated hyperferritinemia without iron overload

35. Proprotein convertase 7 rs236918 associated with liver fibrosis in Italian patients withHFE-related hemochromatosis

36. HIF1A: A Putative Modifier of Hemochromatosis

37. Therapeutic recommendations in HFE hemochromatosis for p.Cys282Tyr (C282Y/C282Y) homozygous genotype

38. Hepcidin regulation in a mouse model of acute hypoxia

39. Transfusion therapy in a multi-ethnic sickle cell population real-world practice. a preliminary data analysis of multicentre survey

40. Ceruloplasmin replacement therapy ameliorates neurological symptoms in a preclinical model of aceruloplasminemia

41. Transfusion Therapy in a Multi-Ethnic Sickle Cell Population Real-World Practice. a Preliminary Data Analysis of Multicentre Survey

42. P2425Effects of intravenous iron therapy on chemoreflex sensitivity and sleep disordered breathing in chronic heart failure

43. P6157Hematinic predictors of hemoglobin response to intravenous iron supplementation in chronic heart failure

44. Circulating factors are involved in hypoxia-induced hepcidin suppression

45. LBP-32-The Natural History of Ferroportin Disease-First Results of the International, Multicenter EASL non-HFE Registry

46. Movement disorders and brain iron overload in a new subtype of aceruloplasminemia

47. Modulation of urinary peptidome in humans exposed to high altitude hypoxia

48. Hepcidin response to acute iron intake and chronic iron loading in dysmetabolic iron overload syndrome

49. Measurement of serum hepcidin-25 levels as a potential test for diagnosing hemochromatosis and related disorders

50. Iron stores, response to α-interferon therapy, and effects of iron depletion in chronic hepatitis C

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