LEUZZI, Vincenzo

LEUZZI, Vincenzo  

DIPARTIMENTO DI NEUROSCIENZE UMANE  

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Titolo Data di pubblicazione Autore(i) File
3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature 2022 Nardecchia, F.; Caciotti, A.; Giovanniello, T.; De Leo, S.; Ferri, L.; Galosi, S.; Santagata, S.; Torres, B.; Bernardini, L.; Carducci, C.; Morrone, A.; Leuzzi, V.
6R-BH4/PHE vs 6R-BH4 loading test in PAH deficient patients 2004 Leuzzi, Vincenzo; Carducci, Claudia; P., Montiri; C., Olita; Carducci, Carla; M., Ferrazzi; Antonozzi, Italo
A diagnostic algorithm for the evaluation of early onset genetic-metabolic epileptic encephalopathies 2012 Mastrangelo, Mario; Andrea, Celato; Leuzzi, Vincenzo
A mutation on exon 6 of guanidinoacetate methyltrasferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme. 2006 Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Matricardi, Maria; Bianchi, Mc; DI SABATO, Ml; Artiola, C; Antonozzi, Italo
A new asymptomatic case of methylmalonic acidemia (MMA) identified by MS/MS newborn screening 2006 Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; DE LEO, S; Vestri, L; Santagata, Silvia; Pozzessere, Simone; Antonozzi, Italo
A new case of guanidinoacetate methyltransferase (GAMT) deficiency. Clinical, molecular and brain 1H-31P –Magnetic Resonance Spectroscopy (MRS) features. 2003 Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; DI SABATO, Ml; Antonozzi, Italo
A New Case Of Guanidinoacetatemethyltransferasi (Gamt) Deficency. Clinical, Molecular And Brain H-P-Magnetic Resonance Spectroscopy (Mrs) Features 2003 Leuzzi, Vincenzo; Carducci, Carla; Bianchi, Mc; Tosetti, M; Carducci, Claudia; Battini, R; Matricardi, Maria; Di Sabato, Ml; Antonozzi, I.
A new case of short/branched-chain acyl-CoA dehydrogenase deficiency caused by two novel mutations 2007 Ca, C; Cl, C; Leuzzi, Vincenzo; Artiola, Cristiana; Santagata, S; DE LUCA, Teresa; Vestri, L; Antonozzi, Italo
A new case of short/branched-chain AcylCoA dehydrigenase deficiency caused by two novel mutations. 2007 Carducci, Carla; Carducci, Claudia; Leuzzi, Vincenzo; Artiola, Cristiana; Santagata, S; DE LUCA, Teresa; Vestri, L; Antonozzi, Italo
A new form of cerebral folate deficiency with severe self-injurious behaviour 2012 Leuzzi, Vincenzo; Mastrangelo, Mario; Celato, Andrea; Carducci, Claudia; Carducci, Carla
A NOVEL TYROSINE HYDROXYLASE GENOTYPE ASSOCIATED WITH EARLY ONSET ENCEPHALOPATY. 2009 Leuzzi, Vincenzo; Carducci, Carla; D., Claps; Carducci, Claudia; Giovanniello, Teresa; N., Blau; Antonozzi, Italo
A rapid method for determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: a new tool for the diagnosis of creatine transport deficiency 2008 Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, Italo
A rapid method for the determination of creatine and creatinine in urine by electrospray tandem mass spectrometry: A new tool for the diagnosis of creatine trasporter deficiency 2008 Carducci, Claudia; Santagata, S; Carducci, Carla; Battini, R; Leuzzi, Vincenzo; Antonozzi, I.
A strategy in the treatment of creatine transporter defect: L-arginine supplementation in three italian CT1 patients 2008 Battini, R; Chilosi, Am; Caruso, U; Mancardi, Mm; Leuzzi, Vincenzo
A strategy in the treatment of creatine transporter defect:L-arginine supplementation in three italian CT1 patients 2008 Battini, R; Chilosi, Am; Caruso, U; Mancardi, Mm; Leuzzi, Vincenzo
A study of AGAT and GAMT gene polymorphisms in Italian population. 2004 Carducci, Carla; Battini, R; Artiola, C; Giovanniello, T; Voli, A; Leuzzi, Vincenzo; Antonozzi,
A study of illegitimate transcripts of phenylalanine hydroxylase gene. 2004 Carducci, Carla; Artiola, C; Ellul, L; Pierrella, M; Giovanniello, T; Leuzzi, Vincenzo; Antonozzi, I.
AADC deficiency from infancy to adulthood: Symptoms and developmental outcome in an international cohort of 63 patients 2020 Pearson, Toni S; Gilbert, Laura; Opladen, Thomas; Garcia-Cazorla, Angeles; Mastrangelo, Mario; Leuzzi, Vincenzo; Tay, Stacy K H; Sykut-Cegielska, Jolanta; Pons, Roser; Mercimek-Andrews, Saadet; Kato, Mitsuhiro; Lücke, Thomas; Oppebøen, Mari; Kurian, Manju A; Steel, Dora; Manti, Filippo; Meeks, Kathleen D; Jeltsch, Kathrin; Flint, Lisa
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes 2012 Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo
Acute ischemic stroke in childhood: a comprehensive review 2021 Mastrangelo, M.; Giordo, L.; Ricciardi, G.; De Michele, M.; Toni, D.; Leuzzi, V.