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86 results

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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.
Multimodality Imaging in Arrhythmogenic Left Ventricular Cardiomyopathy.
Monda E, Rubino M, Palmiero G, Verrillo F, Lioncino M, Diana G, Cirillo A, Fusco A, Dongiglio F, Caiazza M, Altobelli I, Mauriello A, Guarnaccia N, Scatteia A, Cesaro A, Pacileo G, Sarubbi B, Frisso G, Bauce B, D'Andrea A, Dellegrottaglie S, Russo MG, Calabrò P, Limongelli G. Monda E, et al. Among authors: frisso g. J Clin Med. 2023 Feb 16;12(4):1568. doi: 10.3390/jcm12041568. J Clin Med. 2023. PMID: 36836107 Free PMC article. Review.
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
Mulibrey nanism: Two novel mutations in a child identified by Array CGH and DNA sequencing.
Mozzillo E, Cozzolino C, Genesio R, Melis D, Frisso G, Orrico A, Lombardo B, Fattorusso V, Discepolo V, Della Casa R, Simonelli F, Nitsch L, Salvatore F, Franzese A. Mozzillo E, et al. Among authors: frisso g. Am J Med Genet A. 2016 Aug;170(8):2196-9. doi: 10.1002/ajmg.a.37770. Epub 2016 Jun 3. Am J Med Genet A. 2016. PMID: 27256967
Contemporary genetic testing in inherited cardiac disease: tools, ethical issues, and clinical applications.
Girolami F, Frisso G, Benelli M, Crotti L, Iascone M, Mango R, Mazzaccara C, Pilichou K, Arbustini E, Tomberli B, Limongelli G, Basso C, Olivotto I. Girolami F, et al. Among authors: frisso g. J Cardiovasc Med (Hagerstown). 2018 Jan;19(1):1-11. doi: 10.2459/JCM.0000000000000589. J Cardiovasc Med (Hagerstown). 2018. PMID: 29176389 Free PMC article.
A common polymorphism in the SCN5A gene is associated with dilated cardiomyopathy.
Mazzaccara C, Limongelli G, Petretta M, Vastarella R, Pacileo G, Bonaduce D, Salvatore F, Frisso G. Mazzaccara C, et al. Among authors: frisso g. J Cardiovasc Med (Hagerstown). 2018 Jul;19(7):344-350. doi: 10.2459/JCM.0000000000000670. J Cardiovasc Med (Hagerstown). 2018. PMID: 29782370 Free PMC article.
86 results