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Fatal respiratory infection due to ST308 VIM-1-producing Pseudomonas aeruginosa in a lung transplant recipient: case report and review of the literature

BMC infectious diseases, 2020-08, Vol.20 (1), p.1-635, Article 635

2020

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Results of the first international round robin for the quantification of urinary and plasma hepcidin assays: need for standardization

Haematologica (Roma), 2009-12, Vol.94 (12), p.1748-1752

2009

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Oxidative stress biomarkers in Fabry disease: is there a room for them?

Journal of neurology, 2020-12, Vol.267 (12), p.3741-3752

2020

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Hookworm infection in infants: a case report and review of literature

Italian journal of pediatrics, 2021-02, Vol.47 (1), p.26-26, Article 26

2021

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Clinical presentation, genotype–phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel–Lindau syndrome

Endocrine, 2021-10, Vol.74 (1), p.180-187

2021

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Activated factor VII–antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study

Journal of thrombosis and haemostasis, 2016-04, Vol.14 (4), p.655-666

2016

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Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking

Frontiers in cardiovascular medicine, 2023-06, Vol.10, p.1184361-1184361

2023

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Apolipoprotein C‐III predicts cardiovascular mortality in severe coronary artery disease and is associated with an enhanced plasma thrombin generation

Journal of thrombosis and haemostasis, 2010-03, Vol.8 (3), p.463-471

2010

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

Haematologica (Roma), 2012-12, Vol.97 (12), p.1818-1825

2012

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Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

Gastroenterology (New York, N.Y. 1943), 2002-05, Vol.122 (5), p.1295-1302

2002

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Modern iron replacement therapy: clinical and pathophysiological insights

International journal of hematology, 2018-01, Vol.107 (1), p.16-30

2018

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124 Molecular typing of Burkholderia cepacia complex in patients with cystic fibrosis

Journal of cystic fibrosis, 2017-06, Vol.16, p.S97-S97

2017

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Heterogeneity of hemochromatosis in Italy

Gastroenterology (New York, N.Y. 1943), 1998-05, Vol.114 (5), p.996-1002

1998

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C0398: Activated Factor VII-Antithrombin Complex Plasma Concentration is a Predictor of Total and Cardiovascular Mortality in Patients with Coronary Artery Disease and its Prognostic Significance is Improved by Using Factor VII Genotype-Specific Threshold Levels

Thrombosis research, 2014-05, Vol.133, p.S16-S16

2014

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C0401: Factor II Activity is Similarly Increased in Patients with Elevated Apolipoprotein CIII and in Carriers of the Factor II 20210A Allele

Thrombosis research, 2014-05, Vol.133, p.S82-S82

2014

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56 Colonization by Rasamsonia argillacea in cystic fibrosis patients: A two-year retrospective study

Journal of cystic fibrosis, 2015-06, Vol.14, p.S71-S71

2015

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Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

American journal of human genetics, 1997-04, Vol.60 (4), p.828-832

1997

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89 Molecular characterization of strains of methicillin-resistant Staphylococcus aureus (MRSA) in patients with cystic fibrosis (CF)

Journal of cystic fibrosis, 2015-06, Vol.14, p.S80-S80

2015

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P.03.4 SERUM HEPCIDIN IN INFLAMMATORY BOWEL DISEASES

Digestive and liver disease, 2013-03, Vol.45, p.S106-S106

2013

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Molecular Basis for the Recently Described Hereditary Hyperferritinemia-Cataract Syndrome: A Mutation in the Iron-Responsive Element of Ferritin L-Subunit Gene (the “Verona Mutation”)

Blood, 1995-12, Vol.86 (11), p.4050-4053

1995

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1133 A TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE AND TFR2 HEMOCHROMATOSIS PATIENTS

Journal of hepatology, 2010, Vol.52, p.S437-S437

2010

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Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia–cataract syndrome

British journal of haematology, 2001-11, Vol.115 (2), p.334-340

2001

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Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

Arteriosclerosis, thrombosis, and vascular biology, 2013-12, Vol.33 (12), p.2909

2013

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Fatal respiratory infection due to ST308 VIM-1-producing Pseudomonas aeruginosa in a lung transplant recipient: case report and review of the literature

Results of the first international round robin for the quantification of urinary and plasma hepcidin assays: need for standardization

Oxidative stress biomarkers in Fabry disease: is there a room for them?

Hookworm infection in infants: a case report and review of literature

Clinical presentation, genotype–phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel–Lindau syndrome

Activated factor VII–antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study

Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking

Apolipoprotein C‐III predicts cardiovascular mortality in severe coronary artery disease and is associated with an enhanced plasma thrombin generation

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

Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene

Modern iron replacement therapy: clinical and pathophysiological insights

124 Molecular typing of Burkholderia cepacia complex in patients with cystic fibrosis

Heterogeneity of hemochromatosis in Italy

C0398: Activated Factor VII-Antithrombin Complex Plasma Concentration is a Predictor of Total and Cardiovascular Mortality in Patients with Coronary Artery Disease and its Prognostic Significance is Improved by Using Factor VII Genotype-Specific Threshold Levels

C0401: Factor II Activity is Similarly Increased in Patients with Elevated Apolipoprotein CIII and in Carriers of the Factor II 20210A Allele

56 Colonization by Rasamsonia argillacea in cystic fibrosis patients: A two-year retrospective study

Mutation analysis of the HLA-H gene in Italian hemochromatosis patients

89 Molecular characterization of strains of methicillin-resistant Staphylococcus aureus (MRSA) in patients with cystic fibrosis (CF)

Whole-genome sequencing analysis of semi-supercentenarians

P.03.4 SERUM HEPCIDIN IN INFLAMMATORY BOWEL DISEASES

Consensus Statement on the definition and classification of metabolic hyperferritinaemia

Molecular Basis for the Recently Described Hereditary Hyperferritinemia-Cataract Syndrome: A Mutation in the Iron-Responsive Element of Ferritin L-Subunit Gene (the “Verona Mutation”)

1133 A TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE AND TFR2 HEMOCHROMATOSIS PATIENTS

Clinical, biochemical and molecular findings in a series of families with hereditary hyperferritinaemia–cataract syndrome

Exome sequencing and directed clinical phenotyping diagnose cholesterol ester storage disease presenting as autosomal recessive hypercholesterolemia

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