Fiumara A - Search Results

1

Expanded Newborn Screening Using Tandem Mass Spectrometry: Seven Years of Experience in Eastern Sicily.

Messina M, Meli C, Raudino F, Pittalá A, Arena A, Barone R, Giuffrida F, Iacobacci R, Muccilli V, Sorge G, Fiumara A. Messina M, et al. Among authors: fiumara a. Int J Neonatal Screen. 2018 Apr 5;4(2):12. doi: 10.3390/ijns4020012. eCollection 2018 Jun. Int J Neonatal Screen. 2018. PMID: 33072938 Free PMC article.

2

Neonatal Screening on Tandem Mass Spectrometry as a Powerful Tool for the Reassessment of the Prevalence of Underestimated Diseases in Newborns and Their Family Members: A Focus on Short Chain Acyl-CoA Dehydrogenase Deficiency.

Messina M, Arena A, Fiumara A, Iacobacci R, Meli C, Raudino F. Messina M, et al. Among authors: fiumara a. Int J Neonatal Screen. 2020 Jul 28;6(3):58. doi: 10.3390/ijns6030058. Int J Neonatal Screen. 2020. PMID: 33239584 Free PMC article.

3

New ratio as a useful marker for early diagnosis of proximal urea cycle disorders.

Messina M, Raudino F, Iacobacci R, Meli C, Fiumara A. Messina M, et al. Among authors: fiumara a. Clin Chim Acta. 2021 Sep;520:154-159. doi: 10.1016/j.cca.2021.06.011. Epub 2021 Jun 9. Clin Chim Acta. 2021. PMID: 34116006

4

Epilepsy in patients with Angelman syndrome.

Fiumara A, Pittalà A, Cocuzza M, Sorge G. Fiumara A, et al. Ital J Pediatr. 2010 Apr 16;36:31. doi: 10.1186/1824-7288-36-31. Ital J Pediatr. 2010. PMID: 20398390 Free PMC article. Review.

5

Congenital disorders of glycosylation with emphasis on cerebellar involvement.

Barone R, Fiumara A, Jaeken J. Barone R, et al. Among authors: fiumara a. Semin Neurol. 2014 Jul;34(3):357-66. doi: 10.1055/s-0034-1387197. Epub 2014 Sep 5. Semin Neurol. 2014. PMID: 25192513 Review.

6

COVID-19 Pandemic Outbreak and its Psychological Impact on Patients with Rare Lysosomal Diseases.

Fiumara A, Lanzafame G, Arena A, Sapuppo A, Raudino F, Praticò A, Pavone P, Barone R. Fiumara A, et al. J Clin Med. 2020 Aug 22;9(9):2716. doi: 10.3390/jcm9092716. J Clin Med. 2020. PMID: 32842622 Free PMC article.

7

Miglustat Does Not Prevent Neurological Involvement in Niemann Pick C Disease.

Di Rocco M, Barone R, Madeo A, Fiumara A. Di Rocco M, et al. Among authors: fiumara a. Pediatr Neurol. 2015 Oct;53(4):e15. doi: 10.1016/j.pediatrneurol.2015.06.017. Epub 2015 Jul 8. Pediatr Neurol. 2015. PMID: 26255750 No abstract available.

8

Krabbe leukodystrophy in a selected population with high rate of late onset forms: longer survival linked to c.121G>A (p.Gly41Ser) mutation.

Fiumara A, Barone R, Arena A, Filocamo M, Lissens W, Pavone L, Sorge G. Fiumara A, et al. Clin Genet. 2011 Nov;80(5):452-8. doi: 10.1111/j.1399-0004.2010.01572.x. Epub 2010 Nov 11. Clin Genet. 2011. PMID: 21070211

9

Subgaleal hematoma in a child with Sturge-Weber syndrome: to prevent stroke-like episodes, is treatment with aspirin advisable?

Greco F, Fiumara A, Sorge G, Pavone L. Greco F, et al. Among authors: fiumara a. Childs Nerv Syst. 2008 Dec;24(12):1479-81. doi: 10.1007/s00381-008-0662-0. Epub 2008 Jun 25. Childs Nerv Syst. 2008. PMID: 18575872

10

Clinical phenotype correlates to glycoprotein phenotype in a sib pair with CDG-Ia.

Barone R, Sturiale L, Sofia V, Ignoto A, Fiumara A, Sorge G, Garozzo D, Zappia M. Barone R, et al. Among authors: fiumara a. Am J Med Genet A. 2008 Aug 15;146A(16):2103-8. doi: 10.1002/ajmg.a.32446. Am J Med Genet A. 2008. PMID: 18629883

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