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Paolo Colomba

20PUBLICATIONS
32CO-AUTHORS
AutoimmunityGenetic immunologyMedical virologyCancer geneticsInfant and child health
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Journal

Publications (20)

Sort by Publication Date:
|Aug 28, 2025
VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies.

Salvatore Corrao, Marta Moschetti, Salvatore Scibetta

|Aug 14, 2025
Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.

Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba

|May 07, 2025
Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Monia Anania, Miriam Giacomarra, Annalisa D'Errico

|Apr 29, 2025
Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Martina Vinci, Carmela Zizzo, Marta Moschetti

|Feb 12, 2025
Fabry Disease and Inflammation: Potential Role of p65 iso5, an Isoform of the NF-κB Complex.

Giuseppa Biddeci, Gaetano Spinelli, Paolo Colomba

|Feb 04, 2025
Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.

Yuri Battaglia, Federica Baciga, Meilad Shakkour

Pageof 4

Frequent Collaborators

3 joint publications

Francesco Di Blasi

2 joint publications

Gaetano Giuffrida

2 joint publications

Simona Taverna

2 joint publications

Maria Assunta Costa

2 joint publications

Alessia Lo Curto

2 joint publications

Giulia Accardi

2 joint publications

Riccardo Alessandro

2 joint publications

Calogero Caruso

2 joint publications

Giuseppa Biddeci

2 joint publications

Salvatore Corrao

Frequent Collaborators

3 joint publications

Francesco Di Blasi

2 joint publications

Gaetano Giuffrida

2 joint publications

Simona Taverna

2 joint publications

Maria Assunta Costa

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