Pubblicazioni

The clinical value of peripheral biogenic amine metabolites in early-treated phenylketonuria

2025 - MOLECULAR GENETICS AND METABOLISM
Manti, Filippo; DI CARLO, Emanuele; Santagata, Silvia; Giovanniello, Teresa; Angeloni, Antonio; Pisani, Francesco; Pascucci, Tiziana; Nardecchia, Francesca; Carducci, Claudia; Leuzzi, Vincenzo

Pegvaliase therapy for phenylketonuria: Real-world case series and clinical insights

2024 - MOLECULAR GENETICS AND METABOLISM
Scala, Iris; Brodosi, Lucia; Gueraldi, Daniela; Manti, Filippo; Rovelli, Valentina; Zuvadelli, Juri; Agnelli, Giulio; Cazzorla, Chiara; Nardecchia, Francesca; Giammanco, Antonina; Biasucci, Giacomo

New findings about neuropathological outcomes in the PKU mouse throughout lifespan

2024 - MOLECULAR GENETICS AND METABOLISM
Bregalda, Alessandro; Carducci, Claudia; Pascucci, Tiziana; Ambrogini, Patrizia; Sartini, Stefano; Pierigè, Francesca; DI CARLO, Emanuele; Fiori, Elena; Ielpo, Donald; Pagliarini, Marica; Leuzzi, Vincenzo; Magnani, Mauro; Rossi, Luigia

Neuroimaging in early-treated phenylketonuria patients and clinical outcome: A systematic review

2023 - MOLECULAR GENETICS AND METABOLISM
De Giorgi, Agnese; Nardecchia, Francesca; Manti, Filippo; Campistol, Jaume; Leuzzi, Vincenzo

Towards precision medicine for phenylketonuria: The effect of restoring a strict metabolic control in adult patients with early-treated phenylketonuria

2023 - MOLECULAR GENETICS AND METABOLISM
Manti, Filippo; Nardecchia, Francesca; De Leo, Sabrina; Carducci, Claudia; Romani, Cristina; Palermo, Liana; Angeloni, Antonio; Leuzzi, Vincenzo

Metabolic control and clinical outcome in adolescents with phenylketonuria

2023 - MOLECULAR GENETICS AND METABOLISM
De Giorgi, Agnese; Nardecchia, Francesca; Romani, Cristina; Leuzzi, Vincenzo

Stroke and stroke-like episodes in inborn errors of metabolism: Pathophysiological and clinical implications

2022 - MOLECULAR GENETICS AND METABOLISM
Mastrangelo, M.; Ricciardi, G.; Giordo, L.; De Michele, M.; Toni, D.; Leuzzi, V.

Spectrum of DDC variants causing aromatic l-amino acid decarboxylase (AADC) deficiency and pathogenicity interpretation using ACMG-AMP/ACGS recommendations

2022 - MOLECULAR GENETICS AND METABOLISM
Himmelreich, Nastassja; Montioli, Riccardo; Garbade, Sven F.; Kopesky, Jeffrey; Elsea, Sarah H.; Carducci, Carla; Voltattorni, Carla B.; Blau, Nenad

Defining tetrahydrobiopterin responsiveness in phenylketonuria: Survey results from 38 countries

2021 - MOLECULAR GENETICS AND METABOLISM
Evers, R. A. F.; van Wegberg, A. M. J.; Ahring, K.; Beblo, S.; Belanger-Quintana, A.; Bosch, A. M.; Burlina, A.; Campistol, J.; Coskun, T.; Feillet, F.; Gizewska, M.; Huijbregts, S. C. J.; Kearney, S.; Langeveld, M.; Leuzzi, V.; Maillot, F.; Muntau, A. C.; Rocha, J. C.; Romani, C.; Trefz, F. K.; MacDonald, A.; van Spronsen, F. J.

Compound heterozygosis in AADC deficiency: A complex phenotype dissected through comparison among heterodimeric and homodimeric AADC proteins

2021 - MOLECULAR GENETICS AND METABOLISM
Longo, C.; Montioli, R.; Bisello, G.; Palazzi, L.; Mastrangelo, M.; Brennenstuhl, H.; de Laureto, P. P.; Opladen, T.; Leuzzi, V.; Bertoldi, M.

Neonatal combination therapy for Mucopolysaccharidosis type I: is it greater than the sum of its parts?

2020 - MOLECULAR GENETICS AND METABOLISM
Santi, Ludovica; De Ponti, Giada; Dina, Giorgia; Pievani, Alice; CORSI, ALESSANDRO; RIMINUCCI, MARA; Khan, Shaukat; Sawamoto, Kazuki; Antolini, Laura; Gregori, Silvia; Annoni, Andrea; Biondi, Andrea; Quattrini, Angelo; Tomatsu, Shunji; Serafini., Marta

Long-term clinical outcome of 6-pyruvoyl-tetrahydropterin synthasedeficient patients

2020 - MOLECULAR GENETICS AND METABOLISM
Manti, Filippo; Nardecchia, Francesca; Banderali, Giuseppe; Burlina, Alberto; Carducci, Carla; Carducci, Claudia; Alice Donati, Maria; Gueraldi, Daniela; Paci, Sabrina; Pochiero, Francesca; Porta, Francesco; Ortolano, Rita; Rovelli, Valentina; Cristina Schiaffino, Maria; Spada, Marco; Blau, Nenad; Leuzzi, Vincenzo

Aromatic amino acid decarboxylase deficiency. molecular and metabolic basis and therapeutic outlook

2019 - MOLECULAR GENETICS AND METABOLISM
Himmelreich, Nastassja; Montioli, Riccardo; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Gemperle, Corinne; Berner, Todd; Hyland, Keith; Thöny, Beat; Hoffmann, Georg F.; Voltattorni, Carla B.; Blau, Nenad

A novel compound heterozygous genotype associated with aromatic amino acid decarboxylase deficiency: Clinical aspects and biochemical studies

2019 - MOLECULAR GENETICS AND METABOLISM
Montioli, Riccardo; Battini, Roberta; Paiardini, Alessandro; Tolve, Manuela; Bertoldi, Mariarita; Carducci, Carla; Leuzzi, Vincenzo; Borri Voltattorni, Carla

Clinical characterization of tremor in patients with phenylketonuria

2019 - MOLECULAR GENETICS AND METABOLISM
Nardecchia, F.; Manti, F.; De Leo, S.; Carducci, C.; Leuzzi, V.

Corrigendum to “Pyridoxine-5′-phosphate oxidase (Pnpo) deficiency: Clinical and biochemical alterations associated with the C.347g > A (P.·Arg116gln) mutation” [Mol. Genet. Metab. 122/1–2 (2017) 135–142]

2018 - MOLECULAR GENETICS AND METABOLISM
di Salvo, Martino L.; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo

A new therapy prevents intellectual disability in mouse with phenylketonuria

2018 - MOLECULAR GENETICS AND METABOLISM
Pascucci, Tiziana; Rossi, Luigia; Colamartino, Marco; Gabucci, Claudia; Carducci, Claudia; Valzania, Alessandro; Sasso, Valeria; Bigini, Noemi; Pierigè, Francesca; Viscomi, Maria Teresa; Ventura, Rossella; Cabib, Simona; Magnani, Mauro; Puglisi-Allegra, Stefano; Leuzzi, Vincenzo

Pyridoxine-5'-phosphate oxidase (pnpo) deficiency. clinical and biochemical alterations associated with the c.347g>a (pp. arg116gln) mutation

2017 - MOLECULAR GENETICS AND METABOLISM
Di Salvo, Martino Luigi; Mastrangelo, Mario; Nogués, Isabel; Tolve, Manuela; Paiardini, Alessandro; Carducci, Carla; Mei, Davide; Montomoli, Martino; Tramonti, Angela; Guerrini, Renzo; Contestabile, Roberto; Leuzzi, Vincenzo

Psychiatric disorders in adolescent and young adult patients with phenylketonuria

2016 - MOLECULAR GENETICS AND METABOLISM
Manti, Filippo; Nardecchia, Francesca; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo

Evolution of cardiac pathology in type 1 classic Fabry disease: Progressive cardiomyocyte enlargement leads to increased cell death and fibrosis, and correlates with severity of ventricular hypertrophy

2016 - MOLECULAR GENETICS AND METABOLISMMolecular genetics and Metabolism
Desnick, Rj; Chimenti, Cristina; Doheny, Dana; Frustaci, Andrea

Neurocognitive and neuroimaging outcome of early treated young adult PKU patients: A longitudinal study

2015 - MOLECULAR GENETICS AND METABOLISM
Nardecchia, Francesca; Manti, Filippo; Chiarotti, Flavia; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo

The outcome of white matter abnormalities in early treated phenylketonuric patients. A retrospective longitudinal long-term study

2015 - MOLECULAR GENETICS AND METABOLISM
Mastrangelo, Mario; Chiarotti, Flavia; Berillo, Luana; Caputi, Caterina; Carducci, Claudia; DI BIASI, Claudio; Manti, Filippo; Nardecchia, Francesca; Leuzzi, Vincenzo

Urine sepiapterin excretion as a new diagnostic marker for sepiapterin reductase deficiency

2015 - MOLECULAR GENETICS AND METABOLISM
Carducci, Claudia; Santagata, Silvia; Friedman, Jennifer; Pasquini, Elisabetta; Carducci, Carla; Tolve, Manuela; Angeloni, Antonio; Leuzzi, Vincenzo

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