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Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
Barretta, Ferdinando; Uomo, Fabiana; Fecarotta, Simona; Albano, Lucia; Crisci, Daniela; Verde, Alessandra; Fisco, Maria Grazia; Gallo, Giovanna; Dottore Stagna, Daniela; Pricolo, Maria Rosaria; Alagia, Marianna; Terrone, Gaetano; Rossi, Alessandro; Parenti, Giancarlo; Ruoppolo, Margherita; Mazzaccara, Cristina; Frisso, Giulia.
Afiliação
  • Barretta F; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Uomo F; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
  • Fecarotta S; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Albano L; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
  • Crisci D; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
  • Verde A; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
  • Fisco MG; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
  • Gallo G; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
  • Dottore Stagna D; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
  • Pricolo MR; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Alagia M; Centro Nacional de Investigaciones Cardiovasculares (CNIC), 28029 Madrid, Spain.
  • 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; Metabolic Diseases Unit, Department of Translational Medical Science, Section of Pediatrics, University of Naples Federico II, 80131 Naples, Italy.
  • Mazzaccara C; Department of Molecular Medicine and Medical Biotechnology, University of Naples Federico II, 80131 Naples, Italy.
  • Frisso G; CEINGE Advanced Biotechnologies Franco Salvatore, 80131 Naples, Italy.
Genes (Basel) ; 14(5)2023 04 26.
Article em En | MEDLINE | ID: mdl-37239340

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Metilenotetra-Hidrofolato Redutase (NADPH2) / Homocistinúria Tipo de estudo: Diagnostic_studies / Prognostic_studies / Screening_studies Limite: Humans / Newborn Idioma: En Revista: Genes (Basel) Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Itália