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Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.

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Title: Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
Authors: Dinatolo F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., D'Antona L; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Procopio R; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy., Rocca V; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Lo Feudo E; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Martino S; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Dattola A; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Fabiani F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Colao E; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Amato R; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Trapasso F; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Ruoppolo M; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Frisso G; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Concolino D; Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy., Perrotti N; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy., Viglietto G; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy., Iuliano R; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.
Source: Genes [Genes (Basel)] 2026 May 31; Vol. 17 (6). Date of Electronic Publication: 2026 May 31.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551097 Publication Model: Electronic Cited Medium: Internet ISSN: 2073-4425 (Electronic) Linking ISSN: 20734425 NLM ISO Abbreviation: Genes (Basel) Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Expanding the Mutational Spectrum of ACADVL: Integrative Characterization of the p.Ser72Phe Variant in Very Long-Chain Acyl-CoA Dehydrogenase Deficiency.
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  Data: <searchLink fieldCode="AU" term="%22Dinatolo+F%22">Dinatolo F</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22D'Antona+L%22">D'Antona L</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Procopio+R%22">Procopio R</searchLink>; Department of Medical and Surgical Sciences, Neuroscience Research Center, Magna Graecia University, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Rocca+V%22">Rocca V</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Lo+Feudo+E%22">Lo Feudo E</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Martino+S%22">Martino S</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Dattola+A%22">Dattola A</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Fabiani+F%22">Fabiani F</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Colao+E%22">Colao E</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Amato+R%22">Amato R</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Trapasso+F%22">Trapasso F</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Ruoppolo+M%22">Ruoppolo M</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Frisso+G%22">Frisso G</searchLink>; CEINGE-Biotecnologie Avanzate Franco Salvatore S.C.A R.L., 80145 Naples, Italy.; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Concolino+D%22">Concolino D</searchLink>; Pediatric Unit, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Perrotti+N%22">Perrotti N</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Viglietto+G%22">Viglietto G</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Experimental and Clinical Medicine, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.<br /><searchLink fieldCode="AU" term="%22Iuliano+R%22">Iuliano R</searchLink>; Medical Genetics Unit, Renato Dulbecco University Hospital, 88100 Catanzaro, Italy.; Department of Health Sciences, Campus S. Venuta, University Magna Graecia of Catanzaro, 88100 Catanzaro, Italy.
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  Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2026 May 31; Vol. 17 (6). <i>Date of Electronic Publication: </i>2026 May 31.
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