Monica Mazzucato
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View article: Multidisciplinary consensus on the diagnosis and management of patients with atypical Hemolytic Uremic Syndrome (complement-mediated TMA): Recommendations from Italian scientific societies, patient associations and regulators
Multidisciplinary consensus on the diagnosis and management of patients with atypical Hemolytic Uremic Syndrome (complement-mediated TMA): Recommendations from Italian scientific societies, patient associations and regulators Open
Atypical Hemolytic Uremic Syndrome (aHUS) is a severe, systemic, rare disease (RD) that can occur in people of all ages, and is associated with high rates of morbidity and mortality. Because the management of patients with aHUS can be diff…
View article: Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Correction: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 Open
View article: Aging and rare diseases: from epidemiology to a call to action
Aging and rare diseases: from epidemiology to a call to action Open
Background The number of older people living with a rare disease (RD) is increasing worldwide due to the population aging and scientific progress. This phenomenon poses several challenges for both patients and healthcare providers, who nee…
View article: Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project
Coding undiagnosed rare disease patients in health information systems: recommendations from the RD-CODE project Open
View article: Estimating mortality in rare diseases using a population-based registry, 2002 through 2019
Estimating mortality in rare diseases using a population-based registry, 2002 through 2019 Open
View article: ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross country comparability Open
View article: ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross–country comparability
ORPHAcodes use for the coding of rare diseases: comparison of the accuracy and cross–country comparability Open
Background: Estimates of rare disease (RD) population impact in terms of number of affected patients and accurate disease definition is hampered by their under-representation in current coding systems. This study tested the use of a specif…
View article: Sharing Augmented Reality between a Patient and a Clinician for Assessment and Rehabilitation in Daily Living Activities
Sharing Augmented Reality between a Patient and a Clinician for Assessment and Rehabilitation in Daily Living Activities Open
In rehabilitation settings that exploit Mixed Reality, a clinician risks losing empathy with the patient by being immersed in different worlds, either real and/or virtual. While the patient perceives the rehabilitation stimuli in a mixed r…
View article: Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study
Real-world use of orphan medicinal products (OMPs) in rare disease (RD) patients: A population-based registry study Open
Background: Despite calls for the use of real-world data, the rare diseases (RD) treatment landscape suffers from a scarcity of data referred to orphan medicinal products (OMP) use at the population level. Objectives: We aim to describe th…
View article: The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry
The Epidemiology of Transition into Adulthood of Rare Diseases Patients: Results from a Population-Based Registry Open
Background: Despite the fact that a considerable number of patients diagnosed with childhood-onset rare diseases (RD) survive into adulthood, limited information is available on the epidemiology of this phenomenon, which has a considerable…
View article: Growth Hormone Veneto Region Registry for surveillance and therapy monitoring since 2013
Growth Hormone Veneto Region Registry for surveillance and therapy monitoring since 2013 Open
Growth Hormone (GH) is a peptide hormone that stimulates growth, cell reproduction and regeneration. It is available as high cost drug used to treat children's growth disorders, adult GH deficiency and some rare diseases. Sometimes it is a…