Search Results - "De Leo, Sabrina"

Adult cognitive outcomes in phenylketonuria: explaining causes of variability beyond average Phe levels by Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo

“…The objective was to deepen the understanding of the causes of individual variability in phenylketonuria (PKU) by investigating which metabolic variables are…”
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3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature by Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo

“…3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the gene, which encodes…”
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Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult Samples by Romani, Cristina, Manti, Filippo, Nardecchia, Francesca, Valentini, Federica, Fallarino, Nicoletta, Carducci, Claudia, De Leo, Sabrina, MacDonald, Anita, Palermo, Liana, Leuzzi, Vincenzo

“…We aimed to assess if the same cognitive batteries can be used cross-nationally to monitor the effect of Phenylketonuria (PKU). We assessed whether a battery,…”
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Prebiotic Therapy with Inulin Associated with Low Protein Diet in Chronic Kidney Disease Patients: Evaluation of Nutritional, Cardiovascular and Psychocognitive Parameters by Lai, Silvia, Mazzaferro, Sandro, Muscaritoli, Maurizio, Mastroluca, Daniela, Testorio, Massimo, Perrotta, Adolfo, Esposito, Ylenia, Carta, Maria, Campagna, Linda, Di Grado, Marta, Ramaccini, Cesarina, De Leo, Sabrina, Galani, Alessandro, Amabile, Maria Ida, Molfino, Alessio

“…A relationship between dysbiotic gut microbiome and chronic kidney disease (CKD) has been recently documented; it contributes to CKD-related complications,…”
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A new case of malonic aciduria with a presymptomatic diagnosis and an early treatment by Celato, Andrea, Mitola, Chiara, Tolve, Manuela, Giannini, Maria Teresa, De Leo, Sabrina, Carducci, Claudia, Carducci, Carla, Leuzzi, Vincenzo

“…Abstract Malonyl-CoA decarboxylase deficiency (MLYCD) is a rare autosomal recessive inborn error of metabolism presenting a variable clinical phenotype. We…”
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Sarcopenia and cardiovascular risk indices in patients with chronic kidney disease on conservative and replacement therapy by Lai, Silvia, Muscaritoli, Maurizio, Andreozzi, Paola, Sgreccia, Alessandro, De Leo, Sabrina, Mazzaferro, Sandro, Mitterhofer, Anna Paola, Pasquali, Marzia, Protopapa, Paolo, Spagnoli, Alessandra, Amabile, Maria Ida, Molfino, Alessio

“…•Sarcopenia is highly prevalent in CKD patients, also in conservative therapy.•Sarcopenia is associated with changes in early systemic markers of…”
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Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria by Manti, Filippo, Nardecchia, Francesca, De Leo, Sabrina, Carducci, Claudia, Romani, Cristina, Palermo, Liana, Angeloni, Antonio, Leuzzi, Vincenzo

“…Neonatal screening and early treatment have changed the natural history of PKU, preventing severe neurological and intellectual disability. Nevertheless, the…”
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Clinical characterization of tremor in patients with phenylketonuria by Nardecchia, Francesca, Manti, Filippo, De Leo, Sabrina, Carducci, Claudia, Leuzzi, Vincenzo

“…Phenylketonuria (PKU) is due to the deficit of the enzyme phenylalanine hydroxylase, the first step of dopamine synthesis. If not early treated the disease…”
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