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Page 1
Metabolic stroke in a late-onset form of isolated sulfite oxidase deficiency.
Del Rizzo M, Burlina AP, Sass JO, Beermann F, Zanco C, Cazzorla C, Bordugo A, Giordano L, Manara R, Burlina AB. Del Rizzo M, et al. Among authors: burlina ab, burlina ap. Mol Genet Metab. 2013 Apr;108(4):263-6. doi: 10.1016/j.ymgme.2013.01.011. Epub 2013 Jan 27. Mol Genet Metab. 2013. PMID: 23414711
Quality of Life (QoL) assessment in a cohort of patients with phenylketonuria.
Cazzorla C, Cegolon L, Burlina AP, Celato A, Massa P, Giordano L, Polo G, Daniele A, Salvatore F, Burlina AB. Cazzorla C, et al. Among authors: burlina ab, burlina ap. BMC Public Health. 2014 Dec 4;14:1243. doi: 10.1186/1471-2458-14-1243. BMC Public Health. 2014. PMID: 25471331 Free PMC article.
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: burlina ab, burlina ap. Gene. 2015 Apr 1;559(2):112-8. doi: 10.1016/j.gene.2015.01.013. Epub 2015 Jan 13. Gene. 2015. PMID: 25592817
Diagnostic tests for Niemann-Pick disease type C (NP-C): A critical review.
Vanier MT, Gissen P, Bauer P, Coll MJ, Burlina A, Hendriksz CJ, Latour P, Goizet C, Welford RW, Marquardt T, Kolb SA. Vanier MT, et al. Mol Genet Metab. 2016 Aug;118(4):244-54. doi: 10.1016/j.ymgme.2016.06.004. Epub 2016 Jun 7. Mol Genet Metab. 2016. PMID: 27339554 Free article. Review.
210 results