Works by Boenzi, Sara

Results: 17
    1

    Gender-related effects on urine l-cystine metastability.

    Published in:
    Amino Acids, 2014, v. 46, n. 2, p. 415, doi. 10.1007/s00726-013-1631-9
    By:
    • Masotti, Andrea;
    • Laurenzi, Chiara;
    • Boenzi, Sara;
    • Pastore, Anna;
    • Taranta, Anna;
    • Bellomo, Francesco;
    • Muraca, Maurizio;
    • Dionisi-Vici, Carlo;
    • Bertucci, Pierfrancesco;
    • Strologo, Luca;
    • Emma, Francesco
    Publication type:
    Article
    2
    3

    The hyperornithinemia-hyperammonemiahomocitrullinuria syndrome.

    Published in:
    Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0242-9
    By:
    • Martinelli, Diego;
    • Diodato, Daria;
    • Ponzi, Emanuela;
    • Monné, Magnus;
    • Boenzi, Sara;
    • Bertini, Enrico;
    • Fiermonte, Giuseppe;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
    4
    5

    Plasma methylcitric acid and its correlations with other disease biomarkers: The impact in the follow up of patients with propionic and methylmalonic acidemia.

    Published in:
    Journal of Inherited Metabolic Disease, 2020, v. 43, n. 6, p. 1173, doi. 10.1002/jimd.12287
    By:
    • Maines, Evelina;
    • Catesini, Giulio;
    • Boenzi, Sara;
    • Mosca, Antonella;
    • Candusso, Manila;
    • Dello Strologo, Luca;
    • Martinelli, Diego;
    • Maiorana, Arianna;
    • Liguori, Alessandra;
    • Olivieri, Giorgia;
    • Taurisano, Roberta;
    • Piemonte, Fiorella;
    • Rizzo, Cristiano;
    • Spada, Marco;
    • Dionisi‐Vici, Carlo
    Publication type:
    Article
    6

    The proteome of cblC defect: in vivo elucidation of altered cellular pathways in humans.

    Published in:
    Journal of Inherited Metabolic Disease, 2015, v. 38, n. 5, p. 969, doi. 10.1007/s10545-014-9806-4
    By:
    • Caterino, Marianna;
    • Pastore, Anna;
    • Strozziero, Maria;
    • Giovamberardino, Gianna;
    • Imperlini, Esther;
    • Scolamiero, Emanuela;
    • Ingenito, Laura;
    • Boenzi, Sara;
    • Ceravolo, Ferdinando;
    • Martinelli, Diego;
    • Dionisi-Vici, Carlo;
    • Ruoppolo, Margherita
    Publication type:
    Article
    7

    Glutathione metabolism in cobalamin deficiency type C (cblC).

    Published in:
    Journal of Inherited Metabolic Disease, 2014, v. 37, n. 1, p. 125, doi. 10.1007/s10545-013-9605-3
    By:
    • Pastore, Anna;
    • Martinelli, Diego;
    • Piemonte, Fiorella;
    • Tozzi, Giulia;
    • Boenzi, Sara;
    • Giovamberardino, Gianna;
    • Petrillo, Sara;
    • Bertini, Enrico;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
    8

    Understanding pyrroline-5-carboxylate synthetase deficiency: clinical, molecular, functional, and expression studies, structure-based analysis, and novel therapy with arginine.

    Published in:
    Journal of Inherited Metabolic Disease, 2012, v. 35, n. 5, p. 761, doi. 10.1007/s10545-011-9411-8
    By:
    • Martinelli, Diego;
    • Häberle, Johannes;
    • Rubio, Vicente;
    • Giunta, Cecilia;
    • Hausser, Ingrid;
    • Carrozzo, Rosalba;
    • Gougeard, Nadine;
    • Marco-Marín, Clara;
    • Goffredo, Bianca;
    • Meschini, Maria;
    • Bevivino, Elsa;
    • Boenzi, Sara;
    • Colafati, Giovanna;
    • Brancati, Francesco;
    • Baumgartner, Matthias;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
    9

    Creatine metabolism in urea cycle defects.

    Published in:
    Journal of Inherited Metabolic Disease, 2012, v. 35, n. 4, p. 647, doi. 10.1007/s10545-012-9494-x
    By:
    • Boenzi, Sara;
    • Pastore, Anna;
    • Martinelli, Diego;
    • Goffredo, Bianca;
    • Boiani, Arianna;
    • Rizzo, Cristiano;
    • Dionisi-Vici, Carlo
    Publication type:
    Article
    10

    Expanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience.

    Published in:
    International Journal of Neonatal Screening (IJNS), 2022, v. 8, n. 3, p. N.PAG, doi. 10.3390/ijns8030047
    By:
    • Ruoppolo, Margherita;
    • Malvagia, Sabrina;
    • Boenzi, Sara;
    • Carducci, Carla;
    • Dionisi-Vici, Carlo;
    • Teofoli, Francesca;
    • Burlina, Alberto;
    • Angeloni, Antonio;
    • Aronica, Tommaso;
    • Bordugo, Andrea;
    • Bucci, Ines;
    • Camilot, Marta;
    • Carbone, Maria Teresa;
    • Cardinali, Roberta;
    • Carducci, Claudia;
    • Cassanello, Michela;
    • Castana, Cinzia;
    • Cazzorla, Chiara;
    • Ciatti, Renzo;
    • Ferrari, Simona
    Publication type:
    Article
    11
    12

    Exploiting in silico structural analysis to introduce emerging genotype-phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study.

    Published in:
    Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2023.1307934
    By:
    • Cocciadiferro, Dario;
    • Mazza, Tommaso;
    • Vecchio, Davide;
    • Biagini, Tommaso;
    • Petrizzelli, Francesco;
    • Agolini, Emanuele;
    • Villani, Andrea;
    • Minervino, Daniele;
    • Martinelli, Diego;
    • Rizzo, Cristiano;
    • Boenzi, Sara;
    • Panfili, Filippo Maria;
    • Buonuomo, Paola Sabrina;
    • Macchiaiolo, Marina;
    • Bartuli, Andrea;
    • Novelli, Antonio
    Publication type:
    Article
    13
    14
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    16

    Benefits and Toxicity of Disulfiram in Preclinical Models of Nephropathic Cystinosis.

    Published in:
    Cells (2073-4409), 2021, v. 10, n. 12, p. 3294, doi. 10.3390/cells10123294
    By:
    • Taranta, Anna;
    • Elmonem, Mohamed A.;
    • Bellomo, Francesco;
    • De Leo, Ester;
    • Boenzi, Sara;
    • Janssen, Manoe J.;
    • Jamalpoor, Amer;
    • Cairoli, Sara;
    • Pastore, Anna;
    • De Stefanis, Cristiano;
    • Colucci, Manuela;
    • Rega, Laura R.;
    • Giovannoni, Isabella;
    • Francalanci, Paola;
    • van den Heuvel, Lambertus P.;
    • Dionisi-Vici, Carlo;
    • Goffredo, Bianca M.;
    • Masereeuw, Rosalinde;
    • Levtchenko, Elena;
    • Emma, Francesco
    Publication type:
    Article
    17