Search Results - "Artiola, Cristiana"

Molecular genetics of phenylketonuria and tetrahydrobiopterin deficiency in Jordan by 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

“…Background Information regarding the prevalence of PKU in the Middle East in comparison to other world regions is scarce, which might be explained by…”
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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 by Carducci, Claudia, Carducci, Carla, Santagata, Silvia, Adriano, Enrico, Artiola, Cristiana, Thellung, Stefano, Gatta, Elena, Robello, Mauro, Florio, Tullio, Antonozzi, Italo, Leuzzi, Vincenzo, Balestrino, Maurizio

“…The discovery of the inherited disorders of creatine (Cr) synthesis and transport in the last few years disclosed the importance of blood Cr supply for the…”
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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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Phenotypes and Genotypes of Inherited Disorders of Biogenic Amine Neurotransmitter Metabolism by Mastrangelo, Mario, Tolve, Manuela, Artiola, Cristiana, Bove, Rossella, Carducci, Claudia, Carducci, Carla, Angeloni, Antonio, Pisani, Francesco, Leuzzi, Vincenzo

“…Inherited disorders of biogenic amine metabolism are genetically determined conditions resulting in dysfunctions or lack of enzymes involved in the synthesis,…”
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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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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? by 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

“…Two sisters were diagnosed in their adulthood with aromatic l-amino acid decarboxylase (AADC) deficiency (OMIM#608643). They experienced early myasthenia-like…”
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A mutation on exon 6 of guanidinoacetate methyltransferase (GAMT) gene supports a different function for isoform a and b of GAMT enzyme by Leuzzi, Vincenzo, Carducci, Carla, Carducci, Claudia, Matricardi, Maria, Bianchi, Maria Cristina, Di Sabato, Maria Lucia, Artiola, Cristiana, Antonozzi, Italo

“…A new patient affected by Guanidinoacetate methyltransferase (GAMT) deficiency was reported. This 13-year-old girl presented with mental retardation, as main…”
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