Colomba P - Search Results

1

Pompe disease: pathogenesis, molecular genetics and diagnosis.

Taverna S, Cammarata G, Colomba P, Sciarrino S, Zizzo C, Francofonte D, Zora M, Scalia S, Brando C, Curto AL, Marsana EM, Olivieri R, Vitale S, Duro G. Taverna S, et al. Among authors: colomba p. Aging (Albany NY). 2020 Aug 3;12(15):15856-15874. doi: 10.18632/aging.103794. Epub 2020 Aug 3. Aging (Albany NY). 2020. PMID: 32745073 Free PMC article. Review.

2

Effects of Parietaria judaica pollen extract on human microvascular endothelial cells.

Taverna S, Flugy A, Colomba P, Barranca M, De Leo G, Alessandro R. Taverna S, et al. Among authors: colomba p. Biochem Biophys Res Commun. 2008 Aug 8;372(4):644-9. doi: 10.1016/j.bbrc.2008.05.118. Epub 2008 Jun 2. Biochem Biophys Res Commun. 2008. PMID: 18515075

3

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

Colomba P, Nucera A, Zizzo C, Albeggiani G, Francofonte D, Iemolo F, Tuttolomondo A, Pinto A, Duro G. Colomba P, et al. Clin Biochem. 2012 Jul;45(10-11):839-41. doi: 10.1016/j.clinbiochem.2012.03.015. Epub 2012 Mar 19. Clin Biochem. 2012. PMID: 22465271

4

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

Pisani A, Imbriaco M, Zizzo C, Albeggiani G, Colomba P, Alessandro R, Iemolo F, Duro G. Pisani A, et al. Among authors: colomba p. BMC Cardiovasc Disord. 2012 Jun 8;12:39. doi: 10.1186/1471-2261-12-39. BMC Cardiovasc Disord. 2012. PMID: 22682330 Free PMC article.

5

Misdiagnosis of familial Mediterranean fever in patients with Anderson-Fabry disease.

Zizzo C, Colomba P, Albeggiani G, Gallizzi R, Iemolo F, Nuzzo D, Vasto S, Caruso C, Duro G. Zizzo C, et al. Among authors: colomba p. Clin Genet. 2013 Jun;83(6):576-81. doi: 10.1111/j.1399-0004.2012.01940.x. Epub 2012 Aug 20. Clin Genet. 2013. PMID: 22905681

6

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

Cigna D, D'Anna C, Zizzo C, Francofonte D, Sorrentino I, Colomba P, Albeggiani G, Armini A, Bianchi L, Bini L, Duro G. Cigna D, et al. Among authors: colomba p. Mol Biosyst. 2013 Jun;9(6):1162-8. doi: 10.1039/c3mb25402j. Epub 2013 Feb 5. Mol Biosyst. 2013. PMID: 23385635

7

Response to Simsek et al.

Duro G, Zizzo C, Colomba P. Duro G, et al. Among authors: colomba p. Clin Genet. 2013 Jun;83(6):584. doi: 10.1111/cge.12134. Epub 2013 Apr 5. Clin Genet. 2013. PMID: 23557189 No abstract available.

8

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

Firinu D, Colomba P, Manconi PE, Barca MP, Fenu L, Piseddu G, Zizzo C, Del Giacco SR, Duro G. Firinu D, et al. Among authors: colomba p. Clin Immunol. 2013 May;147(2):129-32. doi: 10.1016/j.clim.2013.03.007. Epub 2013 Mar 27. Clin Immunol. 2013. PMID: 23583915

9

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

Duro G, Musumeci MB, Colomba P, Zizzo C, Albeggiani G, Mastromarino V, Volpe M, Autore C. Duro G, et al. Among authors: colomba p. Gene. 2014 Feb 10;535(2):365-9. doi: 10.1016/j.gene.2013.09.058. Epub 2013 Oct 17. Gene. 2014. PMID: 24140492

10

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

Iemolo F, Pizzo F, Albeggiani G, Zizzo C, Colomba P, Scalia S, Bartolotta C, Duro G. Iemolo F, et al. Among authors: colomba p. BMC Res Notes. 2014 Jan 7;7:11. doi: 10.1186/1756-0500-7-11. BMC Res Notes. 2014. PMID: 24398019 Free PMC article.

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