Pubblicazioni

Vulnerability and resilience to phenylalanine in PKU patients.

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Manti, Filippo; Nardecchia, F; Paci, S; Chiarotti, F; Carducci, Carla; Dalmazzone, S; Giordano, L; Cefalo, G; Banderali, G; Leuzzi, Vincenzo

Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B.

Expanded phenotype in creatine transporter deficiency: identification of two novel mutations correlated with mild clinical presentation

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Mancardi, Mm; Battini, R; Schiaffino, Mc; Alessandri, Mg; Gherzi, M; Viglione, V; Battaglia, Fm; Carducci, Claudia; Moro, F; Carducci, Carla; Morana, G; Tosetti, M; Cioni, G; Leuzzi, Vincenzo

Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in a child with an early myopathic onset

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Battini, R; Lenzi, S; Carducci, Claudia; Astrea, G; Artiola, Cristiana; Carducci, Carla; Frosini, S; Leuzzi, Vincenzo

Secondary pterins alteration in patients with phenylalanine hydroxylase deficit

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Nardecchia, Francesca; Valentini, G; Chiarotti, F; Santagata, Silvia; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo

Safety and efficacy of Rotigotine in 7 patients with monoaminergic neurotransmitter deficiency

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Mastrangelo, Mario; Giannini, Maria Teresa; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo

2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Fiori, L; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Uggetti, C; Podesta’, Af

Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla

Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo

Development of a new LC-MS/MS method for the determination of biopterin and neopterin in dried blood spot

2016 - JOURNAL OF INHERITED METABOLIC DISEASE
Santagata, Silvia; DI CARLO, Emanuele; Angeloni, Antonio; Leuzzi, Vincenzo; Carducci, Claudia

Psychiatric disturbances in adolescent and adult phenylketonuric patients

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Manti, Filippo; Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo

Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Nardecchia, Francesca; Artiola, Cristiana; Carducci, Claudia; Carducci, Carla; Giovanniello, Teresa; Leuzzi, Vincenzo

Optic neuropathy in an adult PKU patient during long term follow-up

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Nardecchia, Francesca; Danti, FEDERICA RACHELE; Berillo, Luana; Manti, Filippo; Mittica, A; Nebbioso, M; Carducci, Claudia

White matter abnormalities in early treated phenylketonuria: a retrospective longitudinal long term study

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Mastrangelo, Mario; Berillo, Luana; Caputi, C; Di Biasi, C; Carducci, Claudia; Chiarotti, F.

The effects of tetrahydrobiopterin (BH4) treatment on cerebral metabolism in phenylketonuric mice

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Pascucci, Tiziana; Fiori, Elena; Carducci, Claudia; Leuzzi, Vincenzo; PUGLISI ALLEGRA, Stefano

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

2015 - JOURNAL OF INHERITED METABOLIC DISEASE
Carducci, Claudia; Santagata, Silvia; Friedman, J; Pasquini, E; Tolve, M; Carducci, Carla; Angeloni, Antonio; Leuzzi, Vincenzo

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