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Journal of Medical Genetics|September 6, 2019
Predictability and inconsistencies of cognitive outcome in patients with phenylketonuria and personalised therapy: the challenge for the future guidelinesVincenzo Leuzzi, Flavia Chiarotti, Francesca Nardecchia, et al.
Frontiers in Neurology|July 31, 2026
Follow-up and outcome of patients with primary BH4 deficienciesFrancesca Nardecchia, Filippo Manti, Agnese De Giorgi, et al.
Parkinsonism & Related Disorders|June 3, 2025
The value of CSF neurotransmitter monitoring in the outcome of gene therapy in aromatic amino acid decarboxylase (AADC) defectFrancesca Nardecchia, Giacomina Ricciardi, Claudia Carducci, et al.
European Journal of Pediatrics|May 26, 2017
Altered tetrahydrobiopterin metabolism in patients with phenylalanine hydroxylase deficiencyFrancesca Nardecchia, Flavia Chiarotti, Claudia Carducci, et al.
Frontiers in Genetics|December 25, 2018
Clinical and Biochemical Features in a Patient With Mitochondrial Fission Factor Gene AlterationAlessia Nasca, Francesca Nardecchia, Anna Commone, et al.
Molecular Genetics and Metabolism Reports|February 27, 2020
Multiple sclerosis and intracellular cobalamin defect (MMACHC/PRDX1) comorbidity in a young maleLuca Pollini, Manuela Tolve, Francesca Nardecchia, et al.
Molecular Genetics and Metabolism|August 7, 2023
Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuriaFilippo Manti, Francesca Nardecchia, Sabrina De Leo, et al.
Genes|August 27, 2021
Intellectual Disability and Brain Creatine Deficit: Phenotyping of the Genetic Mouse Model for GAMT DeficiencyLuigia Rossi, Francesca Nardecchia, Francesca Pierigè, et al.
Molecular Genetics and Metabolism Reports|March 18, 2020
Executive functioning, adaptive skills, emotional and behavioral profile: A comparison between autism spectrum disorder and phenylketonuriaBarbara Trimarco, Filippo Manti, Francesca Nardecchia, et al.
Annals of Clinical and Translational Neurology|February 8, 2024
Biallelic variants in GTPBP3: New patients, phenotypic spectrum, and outcomeFrancesca Nardecchia, Rosalba Carrozzo, Alice Innocenti, et al.
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