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NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Rheumatology (Oxford, England), 2020-11, Vol.59 (11), p.3129-3136

2020

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Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Italian journal of pediatrics, 2018-11, Vol.44 (Suppl 2), p.132-132, Article 132

2018

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Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

Autoimmunity reviews, 2014-12, Vol.13 (12), p.1220-1229

2014

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Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

European journal of human genetics : EJHG, 2019-09, Vol.27 (9), p.1361-1368

2019

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Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

Orphanet journal of rare diseases, 2023-10, Vol.18 (1), p.1-338, Article 338

2023

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Mesothelioma in Familial Mediterranean Fever With Colchicine Intolerance: A Case Report and Literature Review

Frontiers in immunology, 2020-05, Vol.11, p.889-889

2020

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Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study

Journal of the American Society of Echocardiography, 2017-03, Vol.30 (3), p.282-291

2017

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Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

Frontiers in immunology, 2017-08, Vol.8, p.1018-1018

2017

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Interleukin-1 Blockers in Recurrent and Acute Pericarditis: State of the Art and Future Directions

Medicina (Kaunas, Lithuania), 2024-01, Vol.60 (2), p.241

2024

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Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

Mediators of inflammation, 2020, Vol.2020, p.1-12

2020

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Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers

Genes, 2023-06, Vol.14 (7), p.1310

2023

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Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease

ESC Heart Failure, 2020-08, Vol.7 (4), p.1605-1614

2020

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Survey about the Quality of Life of Italian Patients with Fabry Disease

Diseases, 2021-10, Vol.9 (4), p.72

2021

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Evidence of evolution towards left midventricular obstruction in severe Anderson–Fabry cardiomyopathy

ESC Heart Failure, 2021-02, Vol.8 (1), p.725-728

2021

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Improvement of Liver Involvement in Familial Mediterranean Fever After the Introduction of Canakinumab: A Case Report

Mediterranean journal of hematology and infectious diseases, 2020-09, Vol.12 (1)

2020

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The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO)

Journal of clinical medicine, 2021-11, Vol.10 (22), p.5283

2021

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Transitional care management in patients with auto-inflammatory diseases: experience of cooperation of a paediatric and adult centre

Journal of transition medicine, 2022-02, Vol.4 (1), p.102774-62

2022

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Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin

European journal of case reports in internal medicine, 2017-07, Vol.4 (7), p.000645-000645

2017

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The chitinases as biomarkers in immune-mediate diseases

Clinical chemistry and laboratory medicine, 2023-07, Vol.61 (8), p.1363-1381

2023

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2456 Real world outcomes of Fabry disease in Italian excellence centers: the ground study

Nephrology, dialysis, transplantation, 2024-05, Vol.39 (Supplement_1)

2024

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Chronic cough in very old patients on long-term therapy with angiotensin converting enzyme inhibitors and new-onset cancer

European journal of internal medicine, 2023-08, Vol.114, p.141-142

2023

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Incessant Pericarditis Successfully Treated With Anakinra in a Patient on Active Treatment for Mediastinal Lymphoma

Canadian journal of cardiology, 2023-08, Vol.39 (8), p.1154-1157

2023

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Right ventricular strain in Anderson-Fabry disease

International journal of cardiology, 2021-05, Vol.330, p.84-90

2021

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Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography

Investigative ophthalmology & visual science, 2019-06, Vol.60 (7), p.2667-2675

2019

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NLRP12 gene mutations and auto-inflammatory diseases: ever-changing evidence

Clinical hints to diagnosis of attenuated forms of Mucopolysaccharidoses

Caveats and truths in genetic, clinical, autoimmune and autoinflammatory issues in Blau syndrome and early onset sarcoidosis

Rare missense variants in the ALPK1 gene may predispose to periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome

Safety outcomes and patients’ preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond

Mesothelioma in Familial Mediterranean Fever With Colchicine Intolerance: A Case Report and Literature Review

Right Ventricular Hypertrophy, Systolic Function, and Disease Severity in Anderson-Fabry Disease: An Echocardiographic Study

Diagnostic Criteria for Adult-Onset Periodic Fever, Aphthous Stomatitis, Pharyngitis, and Cervical Adenitis (PFAPA) Syndrome

Interleukin-1 Blockers in Recurrent and Acute Pericarditis: State of the Art and Future Directions

Clinical Features at Onset and Genetic Characterization of Pediatric and Adult Patients with TNF-α Receptor—Associated Periodic Syndrome (TRAPS): A Series of 80 Cases from the AIDA Network

Identification by Exome Sequencing of Predisposing Variants in Familial Cases of Autoinflammatory Recurrent Fevers

Prognostic significance of right ventricular hypertrophy and systolic function in Anderson–Fabry disease

Survey about the Quality of Life of Italian Patients with Fabry Disease

Evidence of evolution towards left midventricular obstruction in severe Anderson–Fabry cardiomyopathy

Improvement of Liver Involvement in Familial Mediterranean Fever After the Introduction of Canakinumab: A Case Report

The Use of Chitotriosidase as a Marker of Active Sarcoidosis and in the Diagnosis of Fever of Unknown Origin (FUO)

Transitional care management in patients with auto-inflammatory diseases: experience of cooperation of a paediatric and adult centre

Biotechnological Agents for Patients With Tumor Necrosis Factor Receptor Associated Periodic Syndrome—Therapeutic Outcome and Predictors of Response: Real-Life Data From the AIDA Network

Anderson-Fabry's Disease: A Rare but Treatable Case of Fever of Unknown Origin

The chitinases as biomarkers in immune-mediate diseases

2456 Real world outcomes of Fabry disease in Italian excellence centers: the ground study

Chronic cough in very old patients on long-term therapy with angiotensin converting enzyme inhibitors and new-onset cancer

Incessant Pericarditis Successfully Treated With Anakinra in a Patient on Active Treatment for Mediastinal Lymphoma

Right ventricular strain in Anderson-Fabry disease

Macular Impairment in Fabry Disease: A Morpho-functional Assessment by Swept-Source OCT Angiography and Focal Electroretinography

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