Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center.
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| Title: | Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center. |
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| Authors: | Fecarotta S; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Vaccaro L; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Verde A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Alagia M; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Rossi A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy., Colantuono C; NEGEDIA Srl, Pozzuoli, Naples, Italy., Cacciapuoti MT; NEGEDIA Srl, Pozzuoli, Naples, Italy., Annunziata P; NEGEDIA Srl, Pozzuoli, Naples, Italy., Riccardo S; NEGEDIA Srl, Pozzuoli, Naples, Italy., Grimaldi A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Fusco T; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., De Santis R; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy., Barretta F; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Albano L; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Crisci D; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Vallone F; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Tarallo A; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy., Cesana M; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy., Brunetti-Pierri N; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy., Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy., Cacchiarelli D; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. davide.cacchiarelli@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy. davide.cacchiarelli@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. davide.cacchiarelli@unina.it., Parenti G; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. parenti@unina.it.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy. parenti@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. parenti@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. parenti@unina.it. |
| Source: | Orphanet journal of rare diseases [Orphanet J Rare Dis] 2025 Jan 24; Vol. 20 (1), pp. 38. Date of Electronic Publication: 2025 Jan 24. |
| Publication Type: | Journal Article |
| Journal Info: | Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium: Internet ISSN: 1750-1172 (Electronic) Linking ISSN: 17501172 NLM ISO Abbreviation: Orphanet J Rare Dis Subsets: MEDLINE |
| Database: | MEDLINE Ultimate |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 39856690 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Fecarotta+S%22">Fecarotta S</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Vaccaro+L%22">Vaccaro L</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Verde+A%22">Verde A</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Alagia+M%22">Alagia M</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Rossi+A%22">Rossi A</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; European Reference Network for Hereditary Metabolic Diseases, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Colantuono+C%22">Colantuono C</searchLink>; NEGEDIA Srl, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Cacciapuoti+MT%22">Cacciapuoti MT</searchLink>; NEGEDIA Srl, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Annunziata+P%22">Annunziata P</searchLink>; NEGEDIA Srl, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Riccardo+S%22">Riccardo S</searchLink>; NEGEDIA Srl, Pozzuoli, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Grimaldi+A%22">Grimaldi A</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Fusco+T%22">Fusco T</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22De+Santis+R%22">De Santis R</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Barretta+F%22">Barretta F</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Albano+L%22">Albano L</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Crisci+D%22">Crisci D</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Vallone+F%22">Vallone F</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Tarallo+A%22">Tarallo A</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.<br /><searchLink fieldCode="AU" term="%22Cesana+M%22">Cesana M</searchLink>; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy.; Department of Advanced Biomedical Sciences, University of Naples 'Federico II', Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Brunetti-Pierri+N%22">Brunetti-Pierri N</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Frisso+G%22">Frisso G</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Ruoppolo+M%22">Ruoppolo M</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples 'Federico II', Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Cacchiarelli+D%22">Cacchiarelli D</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. davide.cacchiarelli@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Armenise/Harvard Laboratory of Integrative Genomics, Pozzuoli, Italy. davide.cacchiarelli@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. davide.cacchiarelli@unina.it.<br /><searchLink fieldCode="AU" term="%22Parenti+G%22">Parenti G</searchLink>; Department of Translational Medicine, University of Naples 'Federico II', Naples, Italy. parenti@unina.it.; Azienda Ospedaliera Universitaria 'Federico II', Naples, Italy. parenti@unina.it.; Telethon Institute of Genetics and Medicine (TIGEM), Pozzuoli, Italy. parenti@unina.it.; Genomics and Experimental Medicine Program, Scuola Superiore Meridionale (SSM, School of Advanced Studies), Naples, Italy. parenti@unina.it. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101266602%22">Orphanet journal of rare diseases</searchLink> [Orphanet J Rare Dis] 2025 Jan 24; Vol. 20 (1), pp. 38. <i>Date of Electronic Publication: </i>2025 Jan 24. – Name: TypePub Label: Publication Type Group: TypPub Data: Journal Article – Name: TitleSource Label: Journal Info Group: Src Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22BioMed+Central%22">BioMed Central </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>101266602 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1750-1172 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2217501172%22">17501172 </searchLink><i>NLM ISO Abbreviation: </i>Orphanet J Rare Dis <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=39856690 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.1186/s13023-025-03546-1 Languages: – Code: eng Text: English PhysicalDescription: Pagination: StartPage: 38 Titles: – TitleFull: Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Fecarotta S – PersonEntity: Name: NameFull: Vaccaro L – PersonEntity: Name: NameFull: Verde A – PersonEntity: Name: NameFull: Alagia M – PersonEntity: Name: NameFull: Rossi A – PersonEntity: Name: NameFull: Colantuono C – PersonEntity: Name: NameFull: Cacciapuoti MT – PersonEntity: Name: NameFull: Annunziata P – PersonEntity: Name: NameFull: Riccardo S – PersonEntity: Name: NameFull: Grimaldi A – PersonEntity: Name: NameFull: Fusco T – PersonEntity: Name: NameFull: De Santis R – PersonEntity: Name: NameFull: Barretta F – PersonEntity: Name: NameFull: Albano L – PersonEntity: Name: NameFull: Crisci D – PersonEntity: Name: NameFull: Vallone F – PersonEntity: Name: NameFull: Tarallo A – PersonEntity: Name: NameFull: Cesana M – PersonEntity: Name: NameFull: Brunetti-Pierri N – PersonEntity: Name: NameFull: Frisso G – PersonEntity: Name: NameFull: Ruoppolo M – PersonEntity: Name: NameFull: Cacchiarelli D – PersonEntity: Name: NameFull: Parenti G IsPartOfRelationships: – BibEntity: Dates: – D: 24 M: 01 Text: 2025 Jan 24 Type: published Y: 2025 Identifiers: – Type: issn-electronic Value: 1750-1172 Numbering: – Type: volume Value: 20 – Type: issue Value: 1 Titles: – TitleFull: Orphanet journal of rare diseases Type: main |
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