Sfoglia per Autore
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
Determinazione dell’attività dell’enzima guanidinoacetato metiltrasferasi (GAMT) mediante ESI-MS/MS.
2004 Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Giovanniello, Teresa; Santagata, S; Leuzzi, Vincenzo; Antonozzi, Italo
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC
2005 Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Artiola, Cristiana; Giovanniello, Teresa; Pozzessere, Simone; Antonozzi, Italo
Two new mutations on tyrosine hydroxylase gene (TH) presenting as late onset dystonic-dyskinetic syndrome
2006 Leuzzi, Vincenzo; Giovanniello, Teresa; Carducci, Carla; Carducci, Claudia; Di Sabato, Ml; Artiola, Cristiana; Antonozzi, Italo
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylanine hydroxylase deficiency.
2006 Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Chiarotti, F; Artiola, Cristiana; Giovanniello, Teresa; 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
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study
2007 Leuzzi, Vincenzo; M., Tosetti; D., Montanaro; Carducci, Claudia; Artiola, Cristiana; Carducci, Carla; Antonozzi, Italo; M., Burroni; F., Carnevale; F., Chiarotti; T., Popolizio; G. M., Giannatempo; V., D'Alesio; T., Scarabino
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
The transport of creatine (CR) in the brain: in vitro experiments on rat brain and human cancer cell culture.
2008 Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Santagata, S; Artiola, Cristiana; Balestrino, M; Adriano, E; Antonozzi, Italo
The phenotypic variability in 6- Pyruvoil- thetrahydrobiopterin synthase Deficiency (PTPSD). Clinical presentation and outcome of the italian patients.
2008 Leuzzi, Vincenzo; Burlina, A; Cerone, R; Concolino, D; Donati, Ma; FIORI L., PONZONE AL; Porta, F; Strisciuglio, P; Carducci, Carla; Carducci, Claudia; Vagnoni, C; Artiola, Cristiana; Pozzessere, Simone; Antonozzi, Italo
Il trattamento a lungo termine con tetraidrobiopterina (BH4) di pazienti affetti da deficit di fenilalanina idrossilasi.
2008 Leuzzi, Vincenzo; DE LEO, Sabrina; Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Santagata, ; Antonozzi, Italo
Long term tetrahydrobiopterin (BH4) treatment of phenylalanine hydroxylase (PAH) deficient patients
2008 Leuzzi, Vincenzo; DE LEO, Sabrina; Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Antonozzi, Italo
EXON DELETIONS IN PAH GENE IN ITALIAN HYPERPHENYLALANINEMIC PATIENTS
2010 Carducci, Carla; F., Cali; F., Cali'; Pozzessere, Simone; Artiola, Cristiana; V., Chiavetta; G., Ruggeri; A., Ragalmuto; M., Vinci; Leuzzi, Vincenzo; C., Meli; Antonozzi, Italo; V., Romano
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism
2012 Carducci, Claudia; Carducci, Carla; Santagata, Silvia; Enrico, Adriano; Artiola, Cristiana; Stefano, Thellung; Elena, Gatta; Mauro, Robello; Tullio, Florio; Antonozzi, Italo; Leuzzi, Vincenzo; Maurizio, Balestrino
The natural history of l-aminoacid decarboxylase (AADC) deficiency: report of two never treated adult patients.
2013 Mastrangelo, Mario; Carducci, Claudia; Polizzi, A; Artiola, Cristiana; Sofia, V; Barone, R; Carducci, Carla; Zappia, Giovanni; Ruggieri, M; Leuzzi, Vincenzo
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype?
2015 Leuzzi, Vincenzo; Mastrangelo, Mario; Polizzi, Agata; Artiola, Cristiana; van Kuilenburg, André B. P; Carducci, Carla; Ruggieri, Martino; Barone, Rita; Tavazzi, Barbara; Abeling, Nico G. G. M; Zoetekouw, Lida; Sofia, Vito; Zappia, Mario; Carducci, Claudia
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene
2015 Nardecchia, Francesca; Artiola, Cristiana; Carducci, Claudia; Carducci, Carla; Giovanniello, Teresa; Leuzzi, Vincenzo
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase
2016 Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in a child with an early myopathic onset
2016 Battini, R; Lenzi, S; Carducci, Claudia; Astrea, G; Artiola, Cristiana; Carducci, Carla; Frosini, S; Leuzzi, Vincenzo
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS)
2016 Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
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 | |
Determinazione dell’attività dell’enzima guanidinoacetato metiltrasferasi (GAMT) mediante ESI-MS/MS. | 2004 | Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Giovanniello, Teresa; Santagata, S; Leuzzi, Vincenzo; Antonozzi, Italo | |
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC | 2005 | Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Artiola, Cristiana; Giovanniello, Teresa; Pozzessere, Simone; Antonozzi, Italo | |
Two new mutations on tyrosine hydroxylase gene (TH) presenting as late onset dystonic-dyskinetic syndrome | 2006 | Leuzzi, Vincenzo; Giovanniello, Teresa; Carducci, Carla; Carducci, Claudia; Di Sabato, Ml; Artiola, Cristiana; Antonozzi, Italo | |
The spectrum of phenylalanine variations under tetrahydrobiopterin load in subjects affected by phenylanine hydroxylase deficiency. | 2006 | Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Chiarotti, F; Artiola, Cristiana; Giovanniello, Teresa; 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 | |
The pathogenesis of the white matter abnormalities in phenylketonuria. A multimodal 3.0 tesla MRI and magnetic resonance spectroscopy (1H MRS) study | 2007 | Leuzzi, Vincenzo; M., Tosetti; D., Montanaro; Carducci, Claudia; Artiola, Cristiana; Carducci, Carla; Antonozzi, Italo; M., Burroni; F., Carnevale; F., Chiarotti; T., Popolizio; G. M., Giannatempo; V., D'Alesio; T., Scarabino | |
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 | |
The transport of creatine (CR) in the brain: in vitro experiments on rat brain and human cancer cell culture. | 2008 | Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Santagata, S; Artiola, Cristiana; Balestrino, M; Adriano, E; Antonozzi, Italo | |
The phenotypic variability in 6- Pyruvoil- thetrahydrobiopterin synthase Deficiency (PTPSD). Clinical presentation and outcome of the italian patients. | 2008 | Leuzzi, Vincenzo; Burlina, A; Cerone, R; Concolino, D; Donati, Ma; FIORI L., PONZONE AL; Porta, F; Strisciuglio, P; Carducci, Carla; Carducci, Claudia; Vagnoni, C; Artiola, Cristiana; Pozzessere, Simone; Antonozzi, Italo | |
Il trattamento a lungo termine con tetraidrobiopterina (BH4) di pazienti affetti da deficit di fenilalanina idrossilasi. | 2008 | Leuzzi, Vincenzo; DE LEO, Sabrina; Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Santagata, ; Antonozzi, Italo | |
Long term tetrahydrobiopterin (BH4) treatment of phenylalanine hydroxylase (PAH) deficient patients | 2008 | Leuzzi, Vincenzo; DE LEO, Sabrina; Carducci, Claudia; Carducci, Carla; Artiola, Cristiana; Antonozzi, Italo | |
EXON DELETIONS IN PAH GENE IN ITALIAN HYPERPHENYLALANINEMIC PATIENTS | 2010 | Carducci, Carla; F., Cali; F., Cali'; Pozzessere, Simone; Artiola, Cristiana; V., Chiavetta; G., Ruggeri; A., Ragalmuto; M., Vinci; Leuzzi, Vincenzo; C., Meli; Antonozzi, Italo; V., Romano | |
In vitro study of uptake and synthesis of creatine and its precursors by cerebellar granule cells and astrocytes suggests some hypotheses on the physiopathology of the inherited disorders of creatine metabolism | 2012 | Carducci, Claudia; Carducci, Carla; Santagata, Silvia; Enrico, Adriano; Artiola, Cristiana; Stefano, Thellung; Elena, Gatta; Mauro, Robello; Tullio, Florio; Antonozzi, Italo; Leuzzi, Vincenzo; Maurizio, Balestrino | |
The natural history of l-aminoacid decarboxylase (AADC) deficiency: report of two never treated adult patients. | 2013 | Mastrangelo, Mario; Carducci, Claudia; Polizzi, A; Artiola, Cristiana; Sofia, V; Barone, R; Carducci, Carla; Zappia, Giovanni; Ruggieri, M; Leuzzi, Vincenzo | |
Report of two never treated adult sisters with aromatic L-amino Acid decarboxylase deficiency: a portrait of the natural history of the disease or an expanding phenotype? | 2015 | Leuzzi, Vincenzo; Mastrangelo, Mario; Polizzi, Agata; Artiola, Cristiana; van Kuilenburg, André B. P; Carducci, Carla; Ruggieri, Martino; Barone, Rita; Tavazzi, Barbara; Abeling, Nico G. G. M; Zoetekouw, Lida; Sofia, Vito; Zappia, Mario; Carducci, Claudia | |
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene | 2015 | Nardecchia, Francesca; Artiola, Cristiana; Carducci, Claudia; Carducci, Carla; Giovanniello, Teresa; Leuzzi, Vincenzo | |
Genotype-phenotype correlation study through protein model of 3- methylcrotonyl-CoA carboxylase | 2016 | Tolve, Manuela; Paiardini, Alessandro; Janson, Giacomo; Artiola, Cristiana; Scarno, G; Giovanniello, Teresa; Pasquali, Amelia; Angeloni, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla | |
Aromatic L-Amino Acid Decarboxylase (AADC) deficiency in a child with an early myopathic onset | 2016 | Battini, R; Lenzi, S; Carducci, Claudia; Astrea, G; Artiola, Cristiana; Carducci, Carla; Frosini, S; Leuzzi, Vincenzo | |
Outcome in short chain acyl-CoA dehydrogenase deficiency (SCADD) detected by newborn screening (NBS) | 2016 | Giovanniello, Teresa; Nardecchia, Francesca; Tolve, Manuela; Artiola, Cristiana; Santagata, Silvia; Carducci, Carla; Carducci, Claudia; Angeloni, Antonio; Leuzzi, Vincenzo |
Legenda icone
- file ad accesso aperto
- file disponibili sulla rete interna
- file disponibili agli utenti autorizzati
- file disponibili solo agli amministratori
- file sotto embargo
- nessun file disponibile