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...

Descripción completa

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

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10218448/
https://www.ncbi.nlm.nih.gov/pubmed/37239340
http://dx.doi.org/10.3390/genes14050980

Ejemplares similares