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Clinical and molecular spectra in galactosemic patients from neonatal screening in northeastern Italy: structural and functional characterization of new variations in the galactose-1-phosphate uridyltransferase (GALT) gene.
Viggiano E, Marabotti A, Burlina AP, Cazzorla C, D'Apice MR, Giordano L, Fasan I, Novelli G, Facchiano A, Burlina AB. Viggiano E, et al. Among authors: cazzorla c. Gene. 2015 Apr 1;559(2):112-8. doi: 10.1016/j.gene.2015.01.013. Epub 2015 Jan 13. Gene. 2015. PMID: 25592817
Living with phenylketonuria in adulthood: The PKU ATTITUDE study.
Cazzorla C, Bensi G, Biasucci G, Leuzzi V, Manti F, Musumeci A, Papadia F, Stoppioni V, Tummolo A, Vendemiale M, Polo G, Burlina A. Cazzorla C, et al. Mol Genet Metab Rep. 2018 Jul 11;16:39-45. doi: 10.1016/j.ymgmr.2018.06.007. eCollection 2018 Sep. Mol Genet Metab Rep. 2018. PMID: 30069431 Free PMC article.
Correction: Expert opinion of an Italian working group on the assessment of cognitive, psychological, and neurological outcomes in pediatric, adolescent, and adult patients with phenylketonuria.
Manti F, Caviglia S, Cazzorla C, Dicintio A, Pilotto A, Burlina AP. Manti F, et al. Among authors: cazzorla c. Orphanet J Rare Dis. 2023 Mar 3;18(1):44. doi: 10.1186/s13023-023-02644-2. Orphanet J Rare Dis. 2023. PMID: 36869340 Free PMC article. No abstract available.
Long-term follow-up of a patient with neonatal form of Gaucher disease.
Gragnaniello V, Cazzorla C, Gueraldi D, Loro C, Massa P, Puma A, Cananzi M, Salviati L, Burlina AP, Burlina AB. Gragnaniello V, et al. Among authors: cazzorla c. Am J Med Genet A. 2023 Jul;191(7):1917-1922. doi: 10.1002/ajmg.a.63196. Epub 2023 Apr 3. Am J Med Genet A. 2023. PMID: 37009750
39 results