Publications by authors named "Paolo Colomba"

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Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.
Yuri Battaglia, Federica Baciga, Meilad Shakkour, Savio Russo, Giulia Carnicella, Paolo Colomba

Ren Fail· December 2025

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VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies.
Salvatore Corrao, Marta Moschetti, Salvatore Scibetta, Luigi Calvo, Annarita Giardina, Paolo Colomba

Int J Mol Sci· August 2025

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Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Giovanni Duro, Irene Giacalone

Int J Mol Sci· July 2025

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Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.
Marika Venezia, Martina Vinci, Paolo Colomba, Carmela Zizzo, Giovanni Duro

Biomedicines· May 2025

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Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.
Martina Vinci, Carmela Zizzo, Marta Moschetti, Miriam Giacomarra, Monia Anania, Paolo Colomba

Biomedicines· April 2025

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Identification of Novel Mutations in Patients Affected by Gaucher Disease.
Monia Anania, Miriam Giacomarra, Annalisa D'Errico, Massimo Marano, Immacolata Tartaglione, Paolo Colomba

Int J Mol Sci· April 2025

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Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Giovanni Duro, Monia Anania

Cells· February 2025

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The Identification of a Novel Pathogenic Variant of the Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.
Irene Giacalone, Luigina Ruzzi, Monia Anania, Mariateresa Cuonzo, Emanuela Maria Marsana, Paolo Colomba

Int J Mol Sci· January 2025

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Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease.
Monia Anania, Federico Pieruzzi, Irene Giacalone, Barbara Trezzi, Emanuela Maria Marsana, Paolo Colomba

Int J Mol Sci· January 2025

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Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.
Marta Moschetti, Marika Venezia, Miriam Giacomarra, Emanuela Maria Marsana, Carmela Zizzo, Paolo Colomba

Int J Mol Sci· January 2025

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Mutation Spectrum of Gene in Pompe Disease: Current Knowledge and Results of an Italian Study.
Marta Moschetti, Alessia Lo Curto, Miriam Giacomarra, Daniele Francofonte, Carmela Zizzo, Paolo Colomba

Int J Mol Sci· August 2024

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Diagnosis of Fabry Disease Using Alpha-Galactosidase A Activity or LysoGb3 in Blood Fails to Identify Up to Two Thirds of Female Patients.
Giovanni Duro, Monia Anania, Carmela Zizzo, Daniele Francofonte, Irene Giacalone, Paolo Colomba

Int J Mol Sci· May 2024

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Gaucher Disease or Acid Sphingomyelinase Deficiency? The Importance of Differential Diagnosis.
Miriam Giacomarra, Paolo Colomba, Daniele Francofonte, Marcomaria Zora, Giovanni Caocci

J Clin Med· March 2024

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Corrigendum: Case report: mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease.
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Paolo Colomba

Front Genet· February 2024

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Late-Onset Pompe Disease with Normal Creatine Kinase Levels: The Importance of Rheumatological Suspicion.
Daniela Marotto, Marta Moschetti, Alessia Lo Curto, Anna M Spezzigu, Miriam Giacomarra, Paolo Colomba

Int J Mol Sci· November 2023

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Diagnosing Fabry nephropathy: the challenge of multiple kidney disease.
Pasquale Esposito, Carmela Caputo, Monica Repetto, Alberto Somaschini, Bellone Pietro, Paolo Colomba

BMC Nephrol· November 2023

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Sex Differences in Anderson-Fabry Cardiomyopathy: Clinical, Genetic, and Imaging Analysis in Women.
Denise Cristiana Faro, Valentina Losi, Margherita Stefania Rodolico, Elvira Mariateresa Torrisi, Paolo Colomba

Genes (Basel)· September 2023

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Case report: mutation of a-galactosidase A in a female patient with end-stage renal disease: report of a case of late diagnosis of Anderson-Fabry disease.
Irene Simonetta, Renata Riolo, Federica Todaro, Vincenzo Donadio, Alex Incensi, Paolo Colomba

Front Genet· September 2023

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Halloysite Nanotubes and Sepiolite for Health Applications.
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Francesco Di Blasi

Int J Mol Sci· March 2023

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Nanomaterials: A Review about Halloysite Nanotubes, Properties, and Application in the Biological Field.
Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba, Francesco Di Blasi

Int J Mol Sci· September 2022

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Hemochromatosis Mimicked Gaucher Disease: Role of Hyperferritinemia in Evaluation of a Clinical Case.
Carmela Zizzo, Irene Ruggeri, Paolo Colomba, Christiano Argano, Daniele Francofonte

Biology (Basel)· June 2022

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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.
Giulia Accardi, Filippa Bono, Giuseppe Cammarata, Anna Aiello, Maria Trinidad Herrero, Paolo Colomba

Cells· April 2022

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Can Be miR-126-3p a Biomarker of Premature Aging? An Ex Vivo and In Vitro Study in Fabry Disease.
Alessia Lo Curto, Simona Taverna, Maria Assunta Costa, Rosa Passantino, Giuseppa Augello, Paolo Colomba

Cells· February 2021

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The Phenotypic Characterization of the Cammalleri Sisters, an Example of Exceptional Longevity.
Giulia Accardi, Anna Aiello, Stefano Aprile, Rosalia Caldarella, Giuseppe Cammarata, Paolo Colomba

Rejuvenation Res· December 2020

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Pompe disease: pathogenesis, molecular genetics and diagnosis.
Simona Taverna, Giuseppe Cammarata, Paolo Colomba, Serafina Sciarrino, Carmela Zizzo

Aging (Albany NY)· August 2020

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