Search Results - "OLIVIERI, GIORGIA"
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Specific Anion Effects on Na+ Adsorption at the Aqueous Solution–Air Interface: MD Simulations, SESSA Calculations, and Photoelectron Spectroscopy Experiments
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
Father-to-daughter transmission in late-onset OTC deficiency: an underestimated mechanism of inheritance of an X-linked disease
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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Structure of a Core–Shell Type Colloid Nanoparticle in Aqueous Solution Studied by XPS from a Liquid Microjet
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
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
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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A new UHPLC-MS/MS method for the screening of urinary oligosaccharides expands the detection of storage disorders
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
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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Spinal cord demyelination in children: A diagnostic challenge in neuropaediatrics for a good outcome
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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Ethylmalonic encephalopathy and liver transplantation: long-term outcome of the first treated patient
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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Correlation between the Mandibular Lingula Position and Some Anatomical Landmarks in Cone Beam CT
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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Cognitive-behavioral profiles in teenagers with Dravet syndrome
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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Antibiotic Prophylaxis in the Prevention of Postoperative Infections in Mandibular Third Molar Extractions: Systematic Review and Meta-Analysis
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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Donor-Acceptor Shape Matching Drives Performance in Photovoltaics
Published in Advanced energy materials (01-07-2013)“…While the demonstrated power conversion efficiency of organic photovoltaics (OPVs) now exceeds 10%, new design rules are required to tailor interfaces at the…”
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Oxidation of Small Supported Platinum-based Nanoparticles Under Near-Ambient Pressure Exposure to Oxygen
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
Unravelling molecular disorder at SAM-functionalized charge injection interfaces in organic field-effect transistors
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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Improved biochemical and neurodevelopmental profiles with high-dose hydroxocobalamin therapy in cobalamin C defect
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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Dravet syndrome: Early electroclinical findings and long‐term outcome in adolescents and adults
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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In Situ Solid–Gas Reactivity of Nanoscaled Metal Borides from Molten Salt Synthesis
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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Persistent Hypoglycemia in Children: Targeted Gene Panel Improves the Diagnosis of Hypoglycemia Due to Inborn Errors of Metabolism
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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Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy
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20
The diagnostic challenge of mild citrulline elevation at newborn screening
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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