Search Results - "Teresa Giovanniello"

3-Methylglutaconic Aciduria Type I Due to AUH Defect: The Case Report of a Diagnostic Odyssey and a Review of the Literature by Nardecchia, Francesca, Caciotti, Anna, Giovanniello, Teresa, De Leo, Sabrina, Ferri, Lorenzo, Galosi, Serena, Santagata, Silvia, Torres, Barbara, Bernardini, Laura, Carducci, Claudia, Morrone, Amelia, Leuzzi, Vincenzo

“…3-Methylglutaconic aciduria type I (MGCA1) is an inborn error of the leucine degradation pathway caused by pathogenic variants in the gene, which encodes…”
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Quantitative determination of guanidinoacetate and creatine in dried blood spot by flow injection analysis-electrospray tandem mass spectrometry by Carducci, Claudia, Santagata, Silvia, Leuzzi, Vincenzo, Carducci, Carla, Artiola, Cristiana, Giovanniello, Teresa, Battini, Roberta, Antonozzi, Italo

“…Guanidinoacetate (GAA) and creatine (Cr) are reliable biochemical markers of primary creatine disorders. The aim of this study was to develop and validate a…”
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The diagnostic challenge of mild citrulline elevation at newborn screening by Siri, Barbara, Olivieri, Giorgia, Angeloni, Antonio, Cairoli, Sara, Carducci, Claudia, Cotugno, Giovanna, Di Michele, Silvia, Giovanniello, Teresa, La Marca, Giancarlo, Lepri, Francesca Romana, Novelli, Antonio, Rossi, Claudia, Semeraro, Michela, Dionisi-Vici, Carlo

“…Citrulline is a target analyte measured at expanded newborn screening (NBS) and its elevation represents a biomarker for distal urea cycle disorders and citrin…”
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A New Tyrosine Hydroxylase Genotype Associated With Early-Onset Severe Encephalopathy by Giovanniello, Teresa, Claps, Dianella, Carducci, Carla, Carducci, Claudia, Blau, Nenad, Vigevano, Federico, Antonozzi, Italo, Leuzzi, Vincenzo

“…We describe a boy affected by an early-onset severe encephalopathy (stagnation of psychomotor development, paroxysmal dystonic postures and movements of limbs,…”
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Molecular Analysis of PKU-Associated PAH Mutations: A Fast and Simple Genotyping Test by Tolve, Manuela, Artiola, Cristiana, Pasquali, Amelia, Giovanniello, Teresa, D'Amici, Sirio, Angeloni, Antonio, Pizzuti, Antonio, Carducci, Claudia, Leuzzi, Vincenzo, Carducci, Carla

“…Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of the 1960s. We developed a rapid and simple molecular test for the most…”
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A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia by De Rosa, Anna, Carducci, Carla, Antonozzi, Italo, Giovanniello, Teresa, Xhoxhi, Evgjeni, Criscuolo, Chiara, Menchise, Valeria, Striano, Salvatore, Filla, Alessandro, De Michele, Giuseppe

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A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia Novo padrão de mutação missense no gene GCH1 na distonia dopa-responsiva by Rosana H. Scola, Carla Carducci, Vanise G. Amaral, Paulo J. Lorenzoni, Helio A.G. Teive, Teresa Giovanniello, Lineu C. Werneck

“…Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP…”
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A novel missense mutation pattern of the GCH1 gene in dopa-responsive dystonia by Scola, Rosana H, Carducci, Carla, Amaral, Vanise G, Lorenzoni, Paulo J, Teive, Helio A G, Giovanniello, Teresa, Werneck, Lineu C

“…Dopa-responsive dystonia (DRD) is an inherited metabolic disorder now classified as DYT5 with two different biochemical defects: autosomal dominant GTP…”
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The role of met-enkephalin in silent myocardial ischemia in diabetic patients by Parlapiano, C, Borgia, M C, Tonnarini, G, Campana, E, Giancaspro, G, Pantone, P, Giovanniello, T, Cardarelli, G, Vincentelli, G M, Alegiani, F, Negri, M

“…Met-enkephalin plasma levels were evaluated in 20 cardioischemic diabetic patients. All the patients had ECG ischemic signs. Ten patients with diabetic…”
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A novel mutation in GCH-1 gene in a case of dopa-responsive dystonia by De Rosa, Anna, Carducci, Carla, Antonozzi, Italo, Giovanniello, Teresa, Xhoxhi, Evgjeni, Criscuolo, Chiara, Menchise, Valeria, Striano, Salvatore, Filla, Alessandro, De Michele, Giuseppe

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