TY  - JOUR
AU  - Barretta, Ferdinando
AU  - Uomo, Fabiana
AU  - Fecarotta, Simona
AU  - Albano, Lucia
AU  - Crisci, Daniela
AU  - Verde, Alessandra
AU  - Fisco, Maria Grazia
AU  - Gallo, Giovanna
AU  - Dottore Stagna, Daniela
AU  - Pricolo, Maria Rosaria
AU  - Alagia, Marianna
AU  - Terrone, Gaetano
AU  - Rossi, Alessandro
AU  - Parenti, Giancarlo
AU  - Ruoppolo, Margherita
AU  - Mazzaccara, Cristina
AU  - Frisso, Giulia
PY  - 2023
DO  - 10.3390/genes14050980
UR  - http://hdl.handle.net/20.500.12105/16435
AB  - BACKGROUNDthe 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...
LA  - eng
PB  - Multidisciplinary Digital Publishing Institute (MDPI)
KW  - Methylenetetrahydrofolate Reductase (NADPH2)
KW  - Homocystinuria
KW  - Humans
KW  - Infant, Newborn
KW  - Genetic Testing
KW  - Early Diagnosis
TI  - Contribution of Genetic Test to Early Diagnosis of Methylenetetrahydrofolate Reductase (MTHFR) Deficiency: The Experience of a Reference Center in Southern Italy.
TY  - journal article
ER  -