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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 F, Uomo F, Fecarotta S, Albano L, Crisci D, Verde A, Fisco MG, Gallo G, Dottore Stagna D, Pricolo MR, Alagia M, Terrone G, Rossi A, Parenti G, Ruoppolo M, Mazzaccara C, Frisso G. Barretta F, et al. Among authors: alagia m. Genes (Basel). 2023 Apr 26;14(5):980. doi: 10.3390/genes14050980. Genes (Basel). 2023. PMID: 37239340 Free PMC article.
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II).
Parenti G, Fecarotta S, Alagia M, Attaianese F, Verde A, Tarallo A, Gragnaniello V, Ziagaki A, Guimaraes MJ, Aguiar P, Hahn A, Azevedo O, Donati MA, Kiec-Wilk B, Scarpa M, van der Beek NAME, Del Toro Riera M, Germain DP, Huidekoper H, van den Hout JMP, van der Ploeg AT; and the MetabERN Subnetwork for Lysosomal Disorders. Parenti G, et al. Among authors: alagia m. Orphanet J Rare Dis. 2024 Nov 1;19(1):408. doi: 10.1186/s13023-024-03373-w. Orphanet J Rare Dis. 2024. PMID: 39482698 Free PMC article. Review.
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project.
Scarcella M, Fecarotta S, Alagia M, Barretta F, Uomo F, De Pasquale V, Patel HS, Strisciuglio P, Parenti G, Frisso G, Pavone LM, Ruoppolo M. Scarcella M, et al. Among authors: alagia m. Mol Genet Metab. 2024 Dec 31:109008. doi: 10.1016/j.ymgme.2024.109008. Online ahead of print. Mol Genet Metab. 2024. PMID: 39788860 Free article.
Biochemical phenotyping unravels novel metabolic abnormalities and potential biomarkers associated with treatment of GLUT1 deficiency with ketogenic diet.
Cappuccio G, Pinelli M, Alagia M, Donti T, Day-Salvatore DL, Veggiotti P, De Giorgis V, Lunghi S, Vari MS, Striano P, Brunetti-Pierri N, Kennedy AD, Elsea SH. Cappuccio G, et al. Among authors: alagia m. PLoS One. 2017 Sep 29;12(9):e0184022. doi: 10.1371/journal.pone.0184022. eCollection 2017. PLoS One. 2017. PMID: 28961260 Free PMC article.
73 results