Search Results - "OLIVIERI, GIORGIA"

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  1. 1

    Specific Anion Effects on Na+ Adsorption at the Aqueous Solution–Air Interface: MD Simulations, SESSA Calculations, and Photoelectron Spectroscopy Experiments by Olivieri, Giorgia, Parry, Krista M, D’Auria, Raffaella, Tobias, Douglas J, Brown, Matthew A

    Published in The journal of physical chemistry. B (18-01-2018)
    “…Specific ion effects of the large halide anions have been shown to moderate anion adsorption to the air–water interface (AWI), but little quantitative…”
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  2. 2

    Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease by Siri, Barbara, Olivieri, Giorgia, Lepri, Francesca Romana, Poms, Martin, Goffredo, Bianca Maria, Commone, Anna, Novelli, Antonio, Häberle, Johannes, Dionisi-Vici, Carlo

    Published in Orphanet journal of rare diseases (02-01-2024)
    “…Ornithine Transcarbamylase Deficiency (OTCD) is an X-linked urea cycle disorder characterized by acute hyperammonemic episodes. Hemizygous males are usually…”
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  3. 3

    Structure of a Core–Shell Type Colloid Nanoparticle in Aqueous Solution Studied by XPS from a Liquid Microjet by Olivieri, Giorgia, Brown, Matthew A.

    Published in Topics in catalysis (01-03-2016)
    “…With the developments of near ambient pressure photoemission and the liquid microjet, X-ray photoelectron spectroscopy (XPS) measurements at the…”
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  4. 4

    Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia by Olivieri, Giorgia, Pro, Stefano, Diodato, Daria, Di Capua, Matteo, Longo, Daniela, Martinelli, Diego, Bertini, Enrico, Dionisi-Vici, Carlo

    Published in Orphanet journal of rare diseases (23-08-2019)
    “…Hyperornithinemia-hyperammonemia-homocitrullinuria (HHH) syndrome is a rare disorder of urea cycle characterized by progressive pyramidal and cerebellar…”
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  5. 5

    A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders by Semeraro, Michela, Sacchetti, Elisa, Deodato, Federica, Coşkun, Turgay, Lay, Incilay, Catesini, Giulio, Olivieri, Giorgia, Rizzo, Cristiano, Boenzi, Sara, Dionisi-Vici, Carlo

    Published in Orphanet journal of rare diseases (09-01-2021)
    “…Oligosaccharidoses are storage disorders due to enzymatic defects involved in the breakdown of the oligosaccharidic component of glycosylated proteins. The…”
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    Cation Depth-Distribution at Alkali Halide Aqueous Solution Surfaces by Tissot, Héloise, Olivieri, Giorgia, Gallet, Jean-Jacques, Bournel, Fabrice, Silly, Mathieu G, Sirotti, Fausto, Rochet, François

    Published in Journal of physical chemistry. C (30-04-2015)
    “…Using synchrotron radiation Near-Ambient Pressure X-ray photoemission spectroscopy (NAP-XPS) in surface and bulk sensitive conditions, we specifically explored…”
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  7. 7

    Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome by Battini, Roberta, Olivieri, Giorgia, Milone, Roberta, Mazio, Federica, Scalise, Roberta, Verdolotti, Tommaso, Primiano, Guido, Genovese, Orazio, Mercuri, Eugenio, Servidei, Serenella

    Published in Brain & development (Tokyo. 1979) (01-06-2020)
    “…Biotinidase deficiency (BTD) is an autosomal recessive inborn error of metabolism provoking progressive biotin depletion, which causes, in turn, multiple…”
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  8. 8

    Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient by Olivieri, Giorgia, Martinelli, Diego, Longo, Daniela, Grimaldi, Chiara, Liccardo, Daniela, Di Meo, Ivano, Pietrobattista, Andrea, Sidorina, Anna, Semeraro, Michela, Dionisi-Vici, Carlo

    Published in Orphanet journal of rare diseases (19-05-2021)
    “…Ethylmalonic encephalopathy (EE) is a severe intoxication-type metabolic disorder with multisystem clinical features and leading to early death. In 2014, based…”
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  9. 9

    Correlation between the Mandibular Lingula Position and Some Anatomical Landmarks in Cone Beam CT by Lupi, Saturnino Marco, Landini, Jessica, Olivieri, Giorgia, Todaro, Claudia, Scribante, Andrea, Rodriguez Y Baena, Ruggero

    Published in Healthcare (Basel) (17-12-2021)
    “…the position of the mandibular lingula (Li) affects the success rate of the inferior alveolar nerve block (IANB) and ramus osteotomies. This study evaluated…”
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  10. 10

    Cognitive-behavioral profiles in teenagers with Dravet syndrome by Olivieri, Giorgia, Battaglia, Domenica, Chieffo, Daniella, Rubbino, Roberta, Ranalli, Domiziana, Contaldo, Ilaria, Dravet, Charlotte, Mercuri, Eugenio, Guzzetta, Francesco

    Published in Brain & development (Tokyo. 1979) (01-06-2016)
    “…Abstract Aim To investigate behavior and cognitive performances of teenage patients with Dravet syndrome (DS). Methods We enrolled 20 teenage patients (12…”
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  11. 11

    Antibiotic Prophylaxis in the Prevention of Postoperative Infections in Mandibular Third Molar Extractions: Systematic Review and Meta-Analysis by Lupi, Saturnino Marco, Olivieri, Giorgia, Landini, Jessica, Ferrigno, Andrea, Richelmi, Plinio, Todaro, Claudia, Rodriguez y Baena, Ruggero

    Published in Applied sciences (01-10-2021)
    “…Background: This systematic review and meta-analysis aims to evaluate the effectiveness of antibiotic prophylaxis in the prevention of surgical wound infection…”
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    Oxidation of Small Supported Platinum-based Nanoparticles Under Near-Ambient Pressure Exposure to Oxygen by Naitabdi, Ahmed, Fagiewicz, Robert, Boucly, Anthony, Olivieri, Giorgia, Bournel, Fabrice, Tissot, Héloïse, Xu, Yawei, Benbalagh, Rabah, Silly, Mathieu G., Sirotti, Fausto, Gallet, Jean-Jacques, Rochet, François

    Published in Topics in catalysis (01-03-2016)
    “…The investigation of nanocatalysts under their working conditions of pressures and temperatures represents a real strategy toward a realistic understanding of…”
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  14. 14

    Unravelling molecular disorder at SAM-functionalized charge injection interfaces in organic field-effect transistors by Albonetti, Cristiano, Olivieri, Giorgia, Shehu, Arian, Quiroga, Santiago David, Murgia, Mauro, Biscarini, Fabio

    Published in Organic electronics (01-01-2022)
    “…Charge injection in Organic Field Effect Transistors is investigated by monitoring in real-time the electrical conduction, while in situ growing pentacene…”
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  15. 15

    Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect by Olivieri, Giorgia, Greco, Benedetta, Cairoli, Sara, Catesini, Giulio, Lepri, Francesca Romana, Orazi, Lorenzo, Mallardi, Maria, Martinelli, Diego, Ricci, Daniela, Simeoli, Raffaele, Dionisi-Vici, Carlo

    Published in Journal of inherited metabolic disease (17-08-2024)
    “…Cobalamin C (Cbl-C) defect causes methylmalonic acidemia, homocystinuria, intellectual disability and visual impairment, despite treatment adherence. While…”
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  16. 16

    Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults by Darra, Francesca, Battaglia, Domenica, Dravet, Charlotte, Patrini, Mara, Offredi, Francesca, Chieffo, Daniela, Piazza, Elena, Fontana, Elena, Olivieri, Giorgia, Turrini, Ida, Dalla Bernardina, Bernardo, Granata, Tiziana, Ragona, Francesca

    Published in Epilepsia (Copenhagen) (01-12-2019)
    “…To describe the outcome of Dravet syndrome (DS) in adolescents and adults we conducted a longitudinal retrospective study of two independent cohorts of 34…”
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  17. 17

    In Situ Solid–Gas Reactivity of Nanoscaled Metal Borides from Molten Salt Synthesis by Gouget, Guillaume, Debecker, Damien P, Kim, Ara, Olivieri, Giorgia, Gallet, Jean-Jacques, Bournel, Fabrice, Thomas, Cyril, Ersen, Ovidiu, Moldovan, Simona, Sanchez, Clément, Carenco, Sophie, Portehault, David

    Published in Inorganic chemistry (07-08-2017)
    “…Metal borides have mostly been studied as bulk materials. The nanoscale provides new opportunities to investigate the properties of these materials, e.g.,…”
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  18. 18

    Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism by Ponzi, Emanuela, Maiorana, Arianna, Lepri, Francesca Romana, Mucciolo, Mafalda, Semeraro, Michela, Taurisano, Roberta, Olivieri, Giorgia, Novelli, Antonio, Dionisi-Vici, Carlo

    Published in The Journal of pediatrics (01-11-2018)
    “…To evaluate the role of next generation sequencing in genetic diagnosis of pediatric patients with persistent hypoglycemia. Sixty-four patients investigated…”
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    The diagnostic challenge of mild citrulline elevation at newborn screening by Siri, Barbara, Olivieri, Giorgia, Angeloni, Antonio, Cairoli, Sara, Carducci, Claudia, Cotugno, Giovanna, Di Michele, Silvia, Giovanniello, Teresa, La Marca, Giancarlo, Lepri, Francesca Romana, Novelli, Antonio, Rossi, Claudia, Semeraro, Michela, Dionisi-Vici, Carlo

    Published in Molecular genetics and metabolism (01-04-2022)
    “…Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin…”
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