Search Results - "GIRELLI, D."
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Oxidative stress biomarkers in Fabry disease: is there a room for them?
Published in Journal of neurology (01-12-2020)“…Background Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to…”
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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
Published in BMC infectious diseases (26-08-2020)“…Data regarding the prevalence of metallo-[beta]-lactamases (MBLs) among Pseudomonas aeruginosa isolates in cystic fibrosis patients are scarce. Furthermore,…”
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Clinical presentation, genotype–phenotype correlations, and outcome of pancreatic neuroendocrine tumors in Von Hippel–Lindau syndrome
Published in Endocrine (01-10-2021)“…Purpose Data regarding the clinical management and follow-up of pancreatic neuroendocrine tumors (PanNETs) associated with Von Hippel–Lindau (VHL) syndrome are…”
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Hookworm infection in infants: a case report and review of literature
Published in Italian journal of pediatrics (09-02-2021)“…Hookworm infections (Necator americanus, Ancylostoma duodenale) are common in rural areas of tropical and subtropical countries. Human acquisition results from…”
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Activated factor VII–antithrombin complex predicts mortality in patients with stable coronary artery disease: a cohort study
Published in Journal of thrombosis and haemostasis (01-04-2016)“…Essentials Activated factor VII–antithrombin complex (FVIIa‐AT) in plasma may reflect tissue factor exposure. FVIIa‐AT levels were assessed in an…”
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Results of the first international round robin for the quantification of urinary and plasma hepcidin assays: need for standardization
Published in Haematologica (Roma) (01-12-2009)“…The recently discovered iron regulatory peptide hormone hepcidin holds promise as a novel biomarker in iron metabolism disorders. To date, various mass…”
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Apolipoprotein C‐III predicts cardiovascular mortality in severe coronary artery disease and is associated with an enhanced plasma thrombin generation
Published in Journal of thrombosis and haemostasis (01-03-2010)“…Background: Apolipopoprotein C‐III (apo C‐III) plays a pivotal role in controlling plasma triglyceride (TG) and contributes to the atherogenic properties of…”
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Electrocardiogram analysis in Anderson-Fabry disease: a valuable tool for progressive phenotypic expression tracking
Published in Frontiers in cardiovascular medicine (21-06-2023)“…Electrocardiogram (ECG) has proven to be useful for early detection of cardiac involvement in Anderson-Fabry disease (AFD); however, little evidence is…”
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CYBRD1 as a modifier gene that modulates iron phenotype in HFE p.C282Y homozygous patients
Published in Haematologica (Roma) (01-12-2012)“…Most patients with hereditary hemochromatosis in the Caucasian population are homozygous for the p.C282Y mutation in the HFE gene. The penetrance and…”
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124 Molecular typing of Burkholderia cepacia complex in patients with cystic fibrosis
Published in Journal of cystic fibrosis (01-06-2017)Get full text
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Clinical and pathologic findings in hemochromatosis type 3 due to a novel mutation in transferrin receptor 2 gene
Published in Gastroenterology (New York, N.Y. 1943) (01-05-2002)“…Although most patients with hereditary hemochromatosis are homozygous for a single mutation of the HFE gene on chromosome 6p, accumulating evidence indicates…”
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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
Published in Thrombosis research (01-05-2014)Get full text
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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
Published in Thrombosis research (01-05-2014)Get full text
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56 Colonization by Rasamsonia argillacea in cystic fibrosis patients: A two-year retrospective study
Published in Journal of cystic fibrosis (01-06-2015)“…Objective Rasamsonia is a new genus which comprises both thermotolerant Talaromyces and thermophilic Geosmithia species. Rasamsonia argillacea (RA) has…”
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Mutation analysis of the HLA-H gene in Italian hemochromatosis patients
Published in American journal of human genetics (01-04-1997)“…Hemochromatosis (HH) is an inborn error of iron metabolism, frequent among Caucasians, characterized by progressive iron loading that, if untreated, causes…”
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89 Molecular characterization of strains of methicillin-resistant Staphylococcus aureus (MRSA) in patients with cystic fibrosis (CF)
Published in Journal of cystic fibrosis (01-06-2015)“…Objectives To evaluate the molecular profile of MRSA strains isolated from the low respiratory tract of CF patients chronically colonized, in order to…”
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86 Molecular typing of rapidly growing mycobacteria (RGM) in patients with cystic fibrosis (CF)
Published in Journal of cystic fibrosis (01-06-2015)“…Objectives To perform molecular typing of clinical strains of RGM isolated from the lower respiratory tract of CF patients with persistent, transient and…”
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Heterogeneity of hemochromatosis in Italy
Published in Gastroenterology (New York, N.Y. 1943) (01-05-1998)“…Background & Aims: Patients with hemochromatosis show variable phenotype expression. We evaluated the frequency of hemochromatosis gene (HFE) mutations and the…”
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P.03.4 SERUM HEPCIDIN IN INFLAMMATORY BOWEL DISEASES
Published in Digestive and liver disease (01-03-2013)Get full text
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1133 A TIME COURSE OF HEPCIDIN RESPONSE TO ORAL IRON CHALLENGE IN HFE AND TFR2 HEMOCHROMATOSIS PATIENTS
Published in Journal of hepatology (2010)Get full text
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