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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

Background: the deficiency of 5,10-Methylenetetrahydrofolate reductase (MTHFR) constitutes a rare and severe metabolic disease and is included in most expanded newborn screening (NBS) programs worldwide. Patients with severe MTHFR deficiency develop neurological disorders and premature vascular dise...

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Detalles Bibliográficos
Autores principales:	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
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218448/ https://www.ncbi.nlm.nih.gov/pubmed/37239340 http://dx.doi.org/10.3390/genes14050980

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