Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
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| Title: | Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy. |
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| Authors: | Barretta F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Uomo F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Fecarotta S; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Albano L; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Crisci D; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Verde A; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Fisco MG; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Gallo G; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Dottore Stagna D; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy., Pricolo MR; Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain., Alagia M; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Terrone G; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Rossi A; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Parenti G; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy., Ruoppolo M; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Mazzaccara C; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy., Frisso G; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy. |
| Source: | Genes [Genes (Basel)] 2023 Apr 26; Vol. 14 (5). Date of Electronic Publication: 2023 Apr 26. |
| Publication Type: | Journal Article |
| 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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| FullText | Links: – Type: pdflink Text: Availability: 1 |
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| Header | DbId: mdl DbLabel: MEDLINE Ultimate An: 37239340 AccessLevel: 2 PubType: Academic Journal PubTypeId: academicJournal PreciseRelevancyScore: 0 |
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| Items | – Name: Title Label: Title Group: Ti Data: Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy. – Name: Author Label: Authors Group: Au Data: <searchLink fieldCode="AU" term="%22Barretta+F%22">Barretta F</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Uomo+F%22">Uomo F</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Fecarotta+S%22">Fecarotta S</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Albano+L%22">Albano L</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Crisci+D%22">Crisci D</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Verde+A%22">Verde A</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Fisco+MG%22">Fisco MG</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Gallo+G%22">Gallo G</searchLink>; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Dottore+Stagna+D%22">Dottore Stagna D</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Pricolo+MR%22">Pricolo MR</searchLink>; Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain.<br /><searchLink fieldCode="AU" term="%22Alagia+M%22">Alagia M</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Terrone+G%22">Terrone G</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Rossi+A%22">Rossi A</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Parenti+G%22">Parenti G</searchLink>; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 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, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.<br /><searchLink fieldCode="AU" term="%22Mazzaccara+C%22">Mazzaccara C</searchLink>; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 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, 80131 Naples, Italy.; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy. – Name: TitleSource Label: Source Group: Src Data: <searchLink fieldCode="JN" term="%22101551097%22">Genes</searchLink> [Genes (Basel)] 2023 Apr 26; Vol. 14 (5). <i>Date of Electronic Publication: </i>2023 Apr 26. – 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="%22MDPI%22">MDPI </searchLink><i>Country of Publication: </i>Switzerland <i>NLM ID: </i>101551097 <i>Publication Model: </i>Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>2073-4425 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2220734425%22">20734425 </searchLink><i>NLM ISO Abbreviation: </i>Genes (Basel) <i>Subsets: </i>MEDLINE |
| PLink | https://search.ebscohost.com/login.aspx?direct=true&site=eds-live&db=mdl&AN=37239340 |
| RecordInfo | BibRecord: BibEntity: Identifiers: – Type: doi Value: 10.3390/genes14050980 Languages: – Code: eng Text: English Titles: – TitleFull: Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy. Type: main BibRelationships: HasContributorRelationships: – PersonEntity: Name: NameFull: Barretta F – PersonEntity: Name: NameFull: Uomo F – PersonEntity: Name: NameFull: Fecarotta S – PersonEntity: Name: NameFull: Albano L – PersonEntity: Name: NameFull: Crisci D – PersonEntity: Name: NameFull: Verde A – PersonEntity: Name: NameFull: Fisco MG – PersonEntity: Name: NameFull: Gallo G – PersonEntity: Name: NameFull: Dottore Stagna D – PersonEntity: Name: NameFull: Pricolo MR – PersonEntity: Name: NameFull: Alagia M – PersonEntity: Name: NameFull: Terrone G – PersonEntity: Name: NameFull: Rossi A – PersonEntity: Name: NameFull: Parenti G – PersonEntity: Name: NameFull: Ruoppolo M – PersonEntity: Name: NameFull: Mazzaccara C – PersonEntity: Name: NameFull: Frisso G IsPartOfRelationships: – BibEntity: Dates: – D: 26 M: 04 Text: 2023 Apr 26 Type: published Y: 2023 Identifiers: – Type: issn-electronic Value: 2073-4425 Numbering: – Type: volume Value: 14 – Type: issue Value: 5 Titles: – TitleFull: Genes Type: main |
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