RicercaInizia una nuova ricerca
NOTA: è possibile cercare una corrispondenza esatta usando i doppi apici, ad es: "evoluzione della specie". Qualora si cerchi un identificativo, è consigliabile cercarlo in due modi differenti: tra apici con caratteri speciali es: "978-94-6366-274" oppure senza caratteri speciali solo come sequenza numerica: es 978946366274.
2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy
2016 Fiori, L; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Uggetti, C; Podesta’, Af
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 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 MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT
2011 A., Celato; C., Mitola; V., Vitale; Tolve, Manuela; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo
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 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 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
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes
2012 Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia
2016 Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B.
Titolo | Data di pubblicazione | Autore(i) | File |
---|---|---|---|
2 siblings with a new genotype of GAMT deficiency and response to sodium benzoate therapy | 2016 | Fiori, L; Leuzzi, Vincenzo; Carducci, Claudia; Carducci, Carla; Uggetti, C; Podesta’, Af | |
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 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 MALONIC ACIDURIA: EARLY DIAGNOSIS AND TREATMENT | 2011 | A., Celato; C., Mitola; V., Vitale; Tolve, Manuela; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo | |
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 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 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 | |
Aberrant Phenylalanine Metabolism in PKU (PAH) Heterozygotes | 2012 | Nardecchia, Francesca; Carducci, Claudia; Carducci, Carla; D'Agnano, Daniela; Leuzzi, Vincenzo | |
Abnormal CSF phenylalanine level in patients presenting with disordersof tetrahydrobiopterin (BH4) metabolism with hyperphenylalaninemia | 2016 | Celato, A; Mastrangelo, Mario; Burlina, A. P; Polo, G; Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Burlina, A. B. |
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
Opzioni
Scopri
Tipologia
- 04 Pubblicazione in atti di convegno 70
- 04 Pubblicazione in atti di convegno::04c Atto di convegno in rivista 70
Data di pubblicazione
- 2010 - 2016 33
- 2000 - 2009 35
- 1996 - 1999 2
Editore
- Kluwer Academic Publishers:Journals Department, PO Box 322, 3300 AH Dordrecht Netherlands:011 31 78 6576050, EMAIL: frontoffice@wkap.nl, kluweronline@wkap.nl, INTERNET: http://www.kluwerlaw.com, Fax: 011 31 78 6576254 10
- Springer 3
- Blackwell Science Limited:PO Box 88, Oxford OX2 0NE United Kingdom:011 44 1865 776868, 011 44 1865 206038, EMAIL: journals.cs@blacksci.co.uk, INTERNET: http://www.blackwell-science.com, Fax: 011 44 1865 721205 1
Prodotti per rivista
- JOURNAL OF INHERITED METABOLIC DISEASE 63
- EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY 2
- JOURNAL OF SLEEP RESEARCH 2
- ANNALS OF NEUROLOGY 1
- NEUROPSYCHOLOGICAL TRENDS 1
Prodotti per parola chiave
- 6-pyruvoyl-tetrahydropterin 1
- Arginine 1
- Creatine 1
- CT1 defect 1
- history 1
- Mental retardation 1
- mental retardation 1
- natural 1
- SLC6A8 defect 1
- synthase 1
Lingua
- eng 35
- ita 1
Accesso al fulltext
- no fulltext 70