Paolo Colomba

Palermo, 90146, Italy

Last Updated: 09/26/2026

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Found 49 publications

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.

Family studies in Gaucher Disease: a key resource for early diagnosis and personalized treatment strategies.

Journal: Orphanet journal of rare diseases

Published: January 09, 2026

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.

Epigenetic modulation of the gut-muscle axis in pompe disease: Microbiota fingerprints to cellular and molecular pathomechanisms.

Journal: Molecular metabolism

Published: December 23, 2025

New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases.

New p65 iso5 isoforms as dexamethasone-binding proteins: novel potential therapeutic targets for inflammatory diseases.

Journal: Frontiers in immunology

Published: November 17, 2025

VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies.

VEXAS Syndrome: Genetics, Gender Differences, Clinical Insights, Diagnostic Pitfalls, and Emerging Therapies.

Journal: International journal of molecular sciences

Published: July 16, 2025

Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.

Fabry Disease Beyond Storage: The Role of Inflammation in Disease Progression.

Journal: International journal of molecular sciences

Published: June 16, 2025

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Mucopolysaccharidosis Type I and α-Mannosidosis-Phenotypically Comparable but Genetically Different: Diagnostic and Therapeutic Considerations.

Journal: Biomedicines

Published: April 07, 2025

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Multiplex Ligation Probe Amplification and Sanger Sequencing: Light and Shade in the Diagnosis of Lysosomal Storage Disorders.

Journal: Biomedicines

Published: March 03, 2025

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Identification of Novel Mutations in Patients Affected by Gaucher Disease.

Journal: International journal of molecular sciences

Published: February 10, 2025

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.

Expanded screening for Fabry disease in patients with chronic kidney disease not on dialysis: a multicenter Italian experience.

Journal: Renal failure

Published: February 04, 2025

The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

The Identification of a Novel Pathogenic Variant of the GLA Gene Associated with a Classic Phenotype of Anderson-Fabry Disease: A Clinical and Molecular Study.

Journal: International journal of molecular sciences

Published: December 20, 2024

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Highlights of Precision Medicine, Genetics, Epigenetics and Artificial Intelligence in Pompe Disease.

Journal: International journal of molecular sciences

Published: December 19, 2024

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

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

Journal: Cells

Published: December 10, 2024

Showing 1-12 of 49

Last Updated: 09/26/2026