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ARTIOLA, CRISTIANA

ARTIOLA, CRISTIANA  

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Titolo Data di pubblicazione Autore(i) File
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
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
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
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
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
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
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
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
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
Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan 2020 Carducci, Carla; Amayreh, Wajdi; Ababneh, Haneen; Mahasneh, Amjad; Al Rababah, Buthaina; Al Qaqa, Kefah; Al Aqeel, Momen; Artiola, Cristiana; Tolve, Manuela; D'Amici, Sirio; Shen, Nan; Yu, Yongguo; Hillert, Alicia; Himmelreich, Nastassja; Okun, Jürgen G.; Hoffmann, Georg F.; Blau, Nenad
MUTATION ANALYSIS OF PHENYLALANINE HYDROXYLATION (PAH) GENE BY DHPLC 2005 Carducci, Claudia; Carducci, Carla; Leuzzi, Vincenzo; Artiola, Cristiana; Giovanniello, Teresa; Pozzessere, Simone; 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
Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism 2023 Mastrangelo, Mario; Tolve, Manuela; Artiola, Cristiana; Bove, Rossella; Carducci, Claudia; Carducci, Carla; Angeloni, Antonio; Pisani, Francesco; 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
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
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
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
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