Search Results - "Biolcati, G"
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Long-term observational study of afamelanotide in 115 patients with erythropoietic protoporphyria
Published in British journal of dermatology (1951) (01-06-2015)“…Summary Background In erythropoietic protoporphyria (EPP), an inherited disease of porphyrin‐biosynthesis, the accumulation of protoporphyrin in the skin…”
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Glutathione S-transferase ϴ-subunit as a phenotypic suppressor of pmr1Δ strain, the Kluyveromyces lactis model for Hailey-Hailey disease
Published in Biochimica et biophysica acta (01-11-2016)“…Hailey–Hailey disease (HHD), also known as familial benign chronic pemphigus, is a rare, chronic and recurrent blistering disorder, histologically…”
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Efficacy of the melanocortin analogue Nle4-D-Phe7-α-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease
Published in Clinical and experimental dermatology (01-03-2014)“…Summary Background Hailey–Hailey disease (HHD) is a rare, chronic and recurrent blistering disorder, which is characterized clinically by erosions occurring…”
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Validation of a novel patient reported tool to assess the impact of treatment in erythropoietic protoporphyria: the EPP-QoL
Published in Journal of patient-reported outcomes (03-08-2021)“…Background A novel treatment has been developed for erythropoietic protoporphyria (EPP) (a rare condition that leaves patients highly sensitive to light). To…”
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Complex multipathways alterations and oxidative stress are associated with Hailey-Hailey disease
Published in British journal of dermatology (1951) (01-03-2010)“…Summary Background Hailey–Hailey disease (HHD) is an autosomal dominant disorder characterized by suprabasal cutaneous cell separation (acantholysis) leading…”
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Association between porphyria cutanea tarda and beta-thalassemia major
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-07-2009)“…The paper describes the first two cases of porphyria cutanea tarda associated with beta-thalassemia major. The clinical course of two female patients affected…”
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Dermatological marks in athletes of artistic and rhythmic gymnastics
Published in International journal of sports medicine (01-11-2004)“…The authors present dermatological signs in: a) rhythmic gymnastics athletes, b) male artistic gymnastics athletes, compared to a control group of fitness…”
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Four novel mutations of the coproporphyrinogen III oxidase gene
Published in Cellular and molecular biology (Noisy-le-Grand, France) (16-02-2009)“…Here we report the characterization of four novel mutations and a previously described one of the coproporphyrinogen III oxidase (CPO) gene in five Italian…”
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CD81 expression on CD19+ peripheral blood lymphocytes is associated with chronic HCV disease and increased risk for HCV infection: a putative role for inflammatory cytokines
Published in Journal of biological regulators and homeostatic agents (01-07-2009)“…The level of CD81 cell surface expression, a cellular co-receptor for hepatitis C virus (HCV), is critical for productive HCV infection of host cells. In…”
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Creeping eruption of larva migrans--a case report in a beach volley athlete
Published in International journal of sports medicine (01-11-1997)“…The authors describe a case of cutaneous larva migrans in a beach volley athlete. This pathology is found more often in tropical zones than in European…”
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A case of variegate porphyria with coeliac disease and beta-thalassaemia minor
Published in Dermatology (Basel) (01-01-2004)Get more information
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Molecular characterization of porphyrias in Italy: a diagnostic flow-chart
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-12-2002)“…The porphyrias are disorders associated with inherited or acquired enzyme deficiencies in the heme biosynthetic pathway. The differential diagnosis is often…”
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Acute Intermittent Porphyria: Heterogeneity of Mutations in the Hydroxymethylbilane Synthase Gene in Italy
Published in Blood cells, molecules, & diseases (01-11-2001)“…ABSTRACT Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the gene coding for hydroxymethylbilane synthase…”
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Molecular analysis of the hydroxymethylbilane synthase (HMBS) gene in Italian patients with acute intermittent porphyria: Report of four novel mutations
Published in Human mutation (01-05-2000)“…Acute intermittent porphyria (AIP) is an autosomal disorder caused by molecular abnormalities in the hydroxymethylbilane synthase (HMBS) gene coding for the…”
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Efficacy of the melanocortin analogue Nle4-D-Phe7-[alpha]-melanocyte-stimulating hormone in the treatment of patients with Hailey-Hailey disease
Published in Clinical and experimental dermatology (01-03-2014)“…Summary Background Hailey-Hailey disease (HHD) is a rare, chronic and recurrent blistering disorder, which is characterized clinically by erosions occurring…”
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Iron and porphyria cutanea tarda
Published in Cellular and molecular biology (Noisy-le-Grand, France) (01-02-1997)“…In order to evaluate the pathogenetic role of iron in Porphyria cutanea tarda (PCT), the metabolism of iron was studied in 440 patient with PCT and associated…”
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Incidence of hereditary porphyria cutanea tarda (PCT) in a sample of the Italian population
Published in Archives of Dermatological Research (01-08-1992)“…The determination of the enzymatic activity of URO-D in erythrocytes is the screening method used for differentiation between hereditary and non-hereditary…”
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Does an association exist between PCT and SLE? Results of a study on autoantibodies in 158 patients affected with PCT
Published in Archives of Dermatological Research (01-01-1989)Get full text
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