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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: ruoppolo m. 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: ruoppolo m. 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: ruoppolo m. Neurology. 2014 Jan 7;82(1):e1-4. doi: 10.1212/01.wnl.0000438217.31437.72. Neurology. 2014. PMID: 24379101 No abstract available.
Maternal vitamin B12 deficiency detected in expanded newborn screening.
Scolamiero E, Villani GR, Ingenito L, Pecce R, Albano L, Caterino M, di Girolamo MG, Di Stefano C, Franzese I, Gallo G, Ruoppolo M. Scolamiero E, et al. Among authors: ruoppolo m. Clin Biochem. 2014 Dec;47(18):312-7. doi: 10.1016/j.clinbiochem.2014.08.020. Epub 2014 Sep 7. Clin Biochem. 2014. PMID: 25204964
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: ruoppolo m. Mol Biosyst. 2015 Jun;11(6):1525-35. doi: 10.1039/c4mb00729h. Mol Biosyst. 2015. PMID: 25689098
"Classical organic acidurias": diagnosis and pathogenesis.
Villani GR, Gallo G, Scolamiero E, Salvatore F, Ruoppolo M. Villani GR, et al. Among authors: ruoppolo m. Clin Exp Med. 2017 Aug;17(3):305-323. doi: 10.1007/s10238-016-0435-0. Epub 2016 Sep 9. Clin Exp Med. 2017. PMID: 27613073 Review.
155 results