GIOVANNIELLO, TERESA

GIOVANNIELLO, TERESA  

DIPARTIMENTO DI PEDIATRIA (attivo dal 01/07/2010 al 01/11/2018)  

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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.
A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia 2007 Rosana H., Scola; Carducci, Carla; Vanise G., Amaral; Paulo J., Lorenzoni; Helio A. G., Teive; Giovanniello, Teresa; Lineu C., Werneck
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
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
Dopa-responsive dystonias/dyskinesias (DRDS): diagnosis and monitoring of the treatment 2006 Leuzzi, Vincenzo; Giovanniello, Teresa; Carducci, Carla; Carducci, Claudia; Antonozzi, Italo
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
Molecular analysis of PKU-associated PAH mutations: a fast and simple genotyping test 2018 Tolve, Manuela; Artiola, Cristiana; Pasquali, Amelia; Giovanniello, Teresa; D'Amici, Sirio; Angeloni, Antonio; Pizzuti, Antonio; Carducci, Claudia; Leuzzi, Vincenzo; Carducci, Carla
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC 2005 Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Artiola, Cristiana; Giovanniello, Teresa; Pozzessere, Simone; Antonozzi, Italo
NEOPTERIN EXCRETION IN URINE AS POSSIBLE PERIPHERAL MARKER OF SEGAWA DISEASE 2010 Leuzzi, Vincenzo; Carducci, Claudia; Giovanniello, Teresa; C., Dagostino Costa; D., Dagnano; T., Kolamunnage; Antonozzi, Italo; Carducci, Carla
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
Newborn screening of galactosemia by tandem mass spectrometry (MS/MS): a pilot study. 2006 Leuzzi, Vincenzo; Carducci, Claudia; S., Santagata; Carducci, Carla; Pozzessere, Simone; Giovanniello, Teresa; Antonozzi, Italo
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
The relationship between glicated hemoglobin and polymorphonuclear leukocytes leukotriene B4 release in people with diabetes mellitus 1999 Parlapiano, Claudio; Danese, Chiara Rita; Marangi, Massimo; Campana, E; Pantone, P; Giovanniello, Teresa; Zavattaro, E; Sanguigni, Sergio
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
Transient hyperphenylalaninemia due to heterozygous mutation in pyruvoyltetrahydropterin synthase (PTS) gene 2015 Nardecchia, Francesca; Artiola, Cristiana; Carducci, Claudia; Carducci, Carla; Giovanniello, Teresa; Leuzzi, Vincenzo
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