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Nutrients|October 7, 2020
Cognitive Outcomes and Relationships with Phenylalanine in Phenylketonuria: A Comparison between Italian and English Adult SamplesCristina Romani, Filippo Manti, Francesca Nardecchia, et al.
Journal of Inherited Metabolic Disease|August 25, 2017
Predictability and inconsistencies in the cognitive outcome of early treated PKU patientsFilippo Manti, Francesca Nardecchia, Sabrina Paci, et al.
Molecular Genetics and Metabolism|March 24, 2024
Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insightsIris Scala, Lucia Brodosi, Daniela Gueraldi, et al.
Pharmacological Research|November 29, 2016
Paradoxical sleep deprivation in rats causes a selective reduction in the expression of type-2 metabotropic glutamate receptors in the hippocampusIsabella Panaccione, Luisa Iacovelli, Luigi di Nuzzo, et al.
Cells|February 12, 2026
Phenylketonuria Alters the Prefrontal Cortex Genome-Wide Expression Profile Regardless of the Mouse Genetic BackgroundElena Fiori, Serafina Manila Guzzo, Luisa Lo Iacono, et al.
Molecular Therapy. Methods & Clinical Development|March 23, 2022
Engineering new metabolic pathways in isolated cells for the degradation of guanidinoacetic acid and simultaneous production of creatineMarzia Bianchi, Luigia Rossi, Francesca Pierigè, et al.
International Journal of Molecular Sciences|April 23, 2022
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the LiteratureFrancesca Nardecchia, Anna Caciotti, Teresa Giovanniello, et al.
Journal of Lipid Research|February 11, 2024
Loss of function and reduced levels of sphingolipid desaturase DEGS1 variants are both relevant in disease mechanismMichele Dei Cas, Linda Montavoci, Claudia Pasini, et al.
Parkinsonism & Related Disorders|May 4, 2023
GNAO1-related movement disorder: An update on phenomenology, clinical course, and response to treatmentsMaria Novelli, Serena Galosi, Giovanna Zorzi, et al.
Frontiers in Neuroscience|April 5, 2018
Targeting mGlu5 Metabotropic Glutamate Receptors in the Treatment of Cognitive Dysfunction in a Mouse Model of PhenylketonuriaFrancesca Nardecchia, Rosamaria Orlando, Luisa Iacovelli, et al.
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