ANTONOZZI, Italo
ANTONOZZI, Italo
DIPARTIMENTO DI MEDICINA SPERIMENTALE
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 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 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 Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy
2012 Giovanniello, Teresa; Daniela, Claps; Carducci, Claudia; Carducci, Carla; Nenad, Blau; Federico, Vigevano; Antonozzi, Italo; Leuzzi, Vincenzo
A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia.
2007 A., De Rosa; Carducci, Carla; Antonozzi, Italo; Giovanniello, Teresa; Evgjeni, Xhoxhi; Chiara, Criscuolo; Valeria, Menchise; Salvatore, Striano; Alessandro, Filla; G., De Michele
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
Affezioni neurometaboliche e neurodegenerative del SNC in età pediatrica e riabilitazione. In Formica MM (ed): Trattato di Neurologia Riabilitativa. Cuzzolin Editore, Napoli, 2003; pp: 167-203.
2003 Leuzzi, Vincenzo; Loizzo, Al; Antonozzi, Italo
ALCAPTONURIA
1998 Antonozzi, Italo; Leuzzi, Vincenzo
AMINOACIDOPATIE
1989 Antonozzi, Italo; Leuzzi, Vincenzo
Analisi biochimica e molecolare di un nuovo caso di deficit di guanidinoacetato metiltrasferasi .
2000 Carducci, Carla; Prudente, S; Mercuri, L; Carducci, Claudia; Leuzzi, Vincenzo; Antonozzi, Italo
AUTOMATED HIGH PERFORMANCE LIQUID CHROMATOGRAPHY METHOD FOR THE DETERMINATION OF HOMOCYSTEINE IN PLASMA SAMPLES. JOURNAL OF CHROMATOGRAPHY A. vol. 846, pp. 93-100 ISSN: 0021-9673.
1999 Carducci, Claudia; Birarelli, Maurizio; Nola, M; Antonozzi, Italo
Automated method for the measurement of amino acids in urine by high-performance liquid chromatography.
1996 Carducci, Claudia; Birarelli, Maurizio; Leuzzi, Vincenzo; Santagata, Giuseppe; Serafini, P; Antonozzi, Italo
Autosomal dominant GTP-cyclohydrolase I deficiency presenting as a DOPA responsive myoclonus-dystonia syndrome
2002 Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Cardona, Francesco Carmelo Giovanni; Artiola, Cristiana; Antonozzi, Italo
Biochemical, clinical and neuroradiological (MRI) correlations in late detected PKU patients
1995 Leuzzi, Vincenzo; Trasimeni, G.; Gualdi, G. F.; Antonozzi, Italo
BIOMARCATORI DELL'IMMUNITA' UMORALE
2012 Antonozzi, Italo; Gulletta, E.
Biomarcatori genomici
2012 Carducci, Carla; Antonozzi, Italo
| Titolo | Data di pubblicazione | Autore(i) | File |
|---|---|---|---|
| 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 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 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 Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy | 2012 | Giovanniello, Teresa; Daniela, Claps; Carducci, Claudia; Carducci, Carla; Nenad, Blau; Federico, Vigevano; Antonozzi, Italo; Leuzzi, Vincenzo | |
| A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia. | 2007 | A., De Rosa; Carducci, Carla; Antonozzi, Italo; Giovanniello, Teresa; Evgjeni, Xhoxhi; Chiara, Criscuolo; Valeria, Menchise; Salvatore, Striano; Alessandro, Filla; G., De Michele | |
| 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 | |
| Affezioni neurometaboliche e neurodegenerative del SNC in età pediatrica e riabilitazione. In Formica MM (ed): Trattato di Neurologia Riabilitativa. Cuzzolin Editore, Napoli, 2003; pp: 167-203. | 2003 | Leuzzi, Vincenzo; Loizzo, Al; Antonozzi, Italo | |
| ALCAPTONURIA | 1998 | Antonozzi, Italo; Leuzzi, Vincenzo | |
| AMINOACIDOPATIE | 1989 | Antonozzi, Italo; Leuzzi, Vincenzo | |
| Analisi biochimica e molecolare di un nuovo caso di deficit di guanidinoacetato metiltrasferasi . | 2000 | Carducci, Carla; Prudente, S; Mercuri, L; Carducci, Claudia; Leuzzi, Vincenzo; Antonozzi, Italo | |
| AUTOMATED HIGH PERFORMANCE LIQUID CHROMATOGRAPHY METHOD FOR THE DETERMINATION OF HOMOCYSTEINE IN PLASMA SAMPLES. JOURNAL OF CHROMATOGRAPHY A. vol. 846, pp. 93-100 ISSN: 0021-9673. | 1999 | Carducci, Claudia; Birarelli, Maurizio; Nola, M; Antonozzi, Italo | |
| Automated method for the measurement of amino acids in urine by high-performance liquid chromatography. | 1996 | Carducci, Claudia; Birarelli, Maurizio; Leuzzi, Vincenzo; Santagata, Giuseppe; Serafini, P; Antonozzi, Italo | |
| Autosomal dominant GTP-cyclohydrolase I deficiency presenting as a DOPA responsive myoclonus-dystonia syndrome | 2002 | Leuzzi, Vincenzo; Carducci, Carla; Carducci, Claudia; Cardona, Francesco Carmelo Giovanni; Artiola, Cristiana; Antonozzi, Italo | |
| Biochemical, clinical and neuroradiological (MRI) correlations in late detected PKU patients | 1995 | Leuzzi, Vincenzo; Trasimeni, G.; Gualdi, G. F.; Antonozzi, Italo | |
| BIOMARCATORI DELL'IMMUNITA' UMORALE | 2012 | Antonozzi, Italo; Gulletta, E. | |
| Biomarcatori genomici | 2012 | Carducci, Carla; Antonozzi, Italo |