C. Zizzo

发表

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy

R. Desnick, B. Bembi, L. Salviati, 2018, Journal of Inherited Metabolic Disease.

miR-126-3p and miR-21-5p as Hallmarks of Bio-Positive Ageing; Correlation Analysis and Machine Learning Prediction in Young to Ultra-Centenarian Sicilian Population

C. Caruso, M. A. Costa, G. Cammarata, 2022, Cells.

Fabry disease, a complex pathology not easy to diagnose

G. Cammarata, F. Iemolo, R. Alessandro, 2015 .

Novel α-galactosidase A mutation in patients with severe cardiac manifestations of Fabry disease.

C. Autore, M. Volpe, V. Mastromarino, 2014, Gene.

Familial Mediterranean Fever (FMF) or Fabry disease? Genetic analysis and study of GLA as “modifie r gene” of FMF

C. Caruso, D. Ricerca, G. Duro, 2012 .

Systematic DNA Study for Fabry Disease in the End Stage Renal Disease Patients from a Southern Italy Area

C. Zoccali, A. Pini, M. Postorino, 2018, Kidney and Blood Pressure Research.

Molecular and clinical studies in five index cases with novel mutations in the GLA gene.

E. Riccio, A. Pisani, G. Cammarata, 2016, Gene.

Mutations in the GLA Gene and LysoGb3: Is It Really Anderson-Fabry Disease?

F. Pieruzzi, C. Autore, C. Zoccali, 2018, International journal of molecular sciences.

Parapelvic cysts, a distinguishing feature of renal Fabry disease

F. Pieruzzi, D. Bruzzese, R. Mignani, 2018, Nephrology, dialysis, transplantation : official publication of the European Dialysis and Transplant Association - European Renal Association.

Inter-familial and intra-familial phenotypic variability in three Sicilian families with Anderson-Fabry disease

A. Tuttolomondo, A. Pinto, G. Duro, 2017, Oncotarget.

A family with various symptomatology suggestive of Anderson-Fabry disease and a genetic polymorphism of alpha galactosidase A gene.

A. Tuttolomondo, A. Pinto, G. Duro, 2015, Clinical biochemistry.

A classical phenotype of Anderson-Fabry disease in a female patient with intronic mutations of the GLA gene: a case report

A. Pisani, M. Imbriaco, F. Iemolo, 2012, BMC Cardiovascular Disorders.

High Variability of Fabry Disease Manifestations in an Extended Italian Family

G. Cammarata, P. Fatuzzo, F. Iemolo, 2015, BioMed research international.

From genotype to phenotype

G. Duro, C. Zizzo, 2017 .

Identification of a novel mutation in the alpha-galactosidase A gene in patients with Fabry disease.

A. Tuttolomondo, A. Pinto, F. Iemolo, 2012, Clinical biochemistry.

Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case

S. Corrao, G. Duro, I. Ruggeri, 2022, Biology.

Genetic screening of Fabry patients with EcoTILLING and HRM technology

D. Nuzzo, F. Iemolo, G. Duro, 2011, BMC Research Notes.

Fabry disease and multiple sclerosis misdiagnosis: the role of family history and neurological signs

G. Cammarata, R. Alessandro, M. Pieroni, 2018, Oncotarget.

Pompe disease: pathogenesis, molecular genetics and diagnosis

G. Cammarata, S. Vitale, G. Duro, 2020, Aging.

Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease

C. Caruso, M. A. Costa, G. Cammarata, 2021, Cells.

Identification of a novel and recurrent mutation in the SERPING1 gene in patients with hereditary angioedema.

S. D. Del Giacco, D. Firinu, P. Manconi, 2013, Clinical immunology.

Alteration of proteomic profiles in PBMC isolated from patients with Fabry disease: preliminary findings.

Alessandro Armini, L. Bini, L. Bianchi, 2013, Molecular bioSystems.

FP907HISTORY OF ANDERSON - FABRY DISEASE

G. Cammarata, G. Duro, V. Savica, 2015 .

A pilot study of circulating microRNAs as potential biomarkers of Fabry disease

E. Riccio, A. Pisani, G. Cammarata, 2018, Oncotarget.

De novo mutation in a male patient with Fabry disease: a case report

F. Iemolo, G. Duro, P. Colomba, 2014, BMC Research Notes.

Misdiagnosis of familial Mediterranean fever in patients with Anderson–Fabry disease

C. Caruso, D. Nuzzo, S. Vasto, 2013, Clinical genetics.

Diagnosing Fabry nephropathy: the challenge of multiple kidney disease

F. Viazzi, M. Canepa, A. Parodi, 2023, BMC Nephrology.

Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion

P. Colomba, C. Zizzo, Alessia Lo Curto, 2023, International journal of molecular sciences.

Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis

N. Vitturi, G. Caocci, A. Scortechini, 2024, Journal of clinical medicine.

Mutation Spectrum of GAA Gene in Pompe Disease: Current Knowledge and Results of an Italian Study

P. Colomba, C. Zizzo, Alessia Lo Curto, 2024, International journal of molecular sciences.

Gaucher disease prevalence in 600 patients affected by monoclonal gammopathy of undetermined significance

M. Ragusa, V. Innao, U. Consoli, 2023, European journal of haematology.