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Long-term monitoring for short/branched-chain acyl-CoA dehydrogenase deficiency: A single-center 4-year experience and open issues.
Rossi A, Turturo M, Albano L, Fecarotta S, Barretta F, Crisci D, Gallo G, Perfetto R, Uomo F, Vallone F, Villani G, Strisciuglio P, Parenti G, Frisso G, Ruoppolo M. Rossi A, et al. Among authors: frisso g. Front Pediatr. 2022 Sep 6;10:895921. doi: 10.3389/fped.2022.895921. eCollection 2022. Front Pediatr. 2022. PMID: 36147814 Free PMC article.
The first case of mitochondrial acetoacetyl-CoA thiolase deficiency identified by expanded newborn metabolic screening in Italy: the importance of an integrated diagnostic approach.
Catanzano F, Ombrone D, Di Stefano C, Rossi A, Nosari N, Scolamiero E, Tandurella I, Frisso G, Parenti G, Ruoppolo M, Andria G, Salvatore F. Catanzano F, et al. Among authors: frisso g. J Inherit Metab Dis. 2010 Dec;33 Suppl 3(Suppl 3):S91-4. doi: 10.1007/s10545-009-9028-3. Epub 2010 Feb 16. J Inherit Metab Dis. 2010. PMID: 20157782 Free PMC article.
Child neurology: Recurrent rhabdomyolysis due to a fatty acid oxidation disorder.
Terrone G, Ruoppolo M, Brunetti-Pierri N, Cozzolino C, Scolamiero E, Parenti G, Romano A, Andria G, Salvatore F, Frisso G. Terrone G, et al. Among authors: frisso g. Neurology. 2014 Jan 7;82(1):e1-4. doi: 10.1212/01.wnl.0000438217.31437.72. Neurology. 2014. PMID: 24379101 No abstract available.
Targeted metabolomics in the expanded newborn screening for inborn errors of metabolism.
Scolamiero E, Cozzolino C, Albano L, Ansalone A, Caterino M, Corbo G, di Girolamo MG, Di Stefano C, Durante A, Franzese G, Franzese I, Gallo G, Giliberti P, Ingenito L, Ippolito G, Malamisura B, Mazzeo P, Norma A, Ombrone D, Parenti G, Pellecchia S, Pecce R, Pierucci I, Romanelli R, Rossi A, Siano M, Stoduto T, Villani GR, Andria G, Salvatore F, Frisso G, Ruoppolo M. Scolamiero E, et al. Among authors: frisso g. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. Mol Biosyst. 2015. PMID: 25689098
Hypermethioninemia in Campania: Results from 10 years of newborn screening.
Villani GRD, Albano L, Caterino M, Crisci D, Di Tommaso S, Fecarotta S, Fisco MG, Frisso G, Gallo G, Mazzaccara C, Marchese E, Nolano A, Parenti G, Pecce R, Redi A, Salvatore F, Strisciuglio P, Turturo MG, Vallone F, Ruoppolo M. Villani GRD, et al. Among authors: frisso g. Mol Genet Metab Rep. 2019 Oct 11;21:100520. doi: 10.1016/j.ymgmr.2019.100520. eCollection 2019 Dec. Mol Genet Metab Rep. 2019. PMID: 31641591 Free PMC article.
Hepatic Presentation of Late-Onset Multiple Acyl-CoA Dehydrogenase Deficiency (MADD): Case Report and Systematic Review.
Siano MA, Mandato C, Nazzaro L, Iannicelli G, Ciccarelli GP, Barretta F, Mazzaccara C, Ruoppolo M, Frisso G, Baldi C, Tartaglione S, Di Salle F, Melis D, Vajro P. Siano MA, et al. Among authors: frisso g. Front Pediatr. 2021 May 10;9:672004. doi: 10.3389/fped.2021.672004. eCollection 2021. Front Pediatr. 2021. PMID: 34041209 Free PMC article.
86 results