Zobrazeno 1 - 10 of 104 pro vyhledávání: '"Antonozzi Italo"'
1
Akademický článek
Enhanced interpretation of newborn screening results without analyte cutoff values
Autor: Marquardt, Gregg 1, Currier, Robert 2, McHugh, David M.S. 1, Gavrilov, Dimitar 1, Magera, Mark J. 1, Matern, Dietrich 1, Oglesbee, Devin 1, Raymond, Kimiyo 1, Rinaldo, Piero 1, Smith, Emily H. 1, Tortorelli, Silvia 1, Turgeon, Coleman T. 1, Lorey, Fred 2, Wilcken, Bridget 3, Wiley, Veronica 3, Greed, Lawrence C. 4, Lewis, Barry 4, Boemer, François 5, Schoos, Roland 5, Marie, Sandrine 6, Vincent, Marie-Françoise 6, Sica, Yuri Cleverthon 7, Domingos, Mouseline Torquado 7, Al-Thihli, Khalid 8, Sinclair, Graham 8, Al-Dirbashi, Osama Y. 9, Chakraborty, Pranesh 9, Dymerski, Mark 10, Porter, Cory 10, Manning, Adrienne 11, Seashore, Margretta R. 12, Quesada, Jonessy 13, Reuben, Alejandra 13, Chrastina, Petr 14, Hornik, Petr 14, Mandour, Iman Atef 15, Sharaf, Sahar Abdel Atty 15, Bodamer, Olaf 16, Dy, Bonifacio 17, Torres, Jasmin 17, Zori, Roberto 18, Cheillan, David 19, Vianey-Saban, Christine 19, Ludvigson, David 20, Stembridge, Adrya 21, Bonham, Jim 22, Downing, Melanie 22, Dotsikas, Yannis 23, Loukas, Yannis L. 23, Papakonstantinou, Vagelis 24, Zacharioudakis, Georgios S.A. 24, Baráth, Ákos 25, Karg, Eszter 25, Franzson, Leifur 26, Jonsson, Jon J. 26, Breen, Nancy N. 27, Lesko, Barbara G. 27, Berberich, Stanton L. 28, Turner, Kimberley 29, Ruoppolo, Margherita 30, Scolamiero, Emanuela 30, Antonozzi, Italo 31, Carducci, Claudia 31, Caruso, Ubaldo 32, Cassanello, Michela 32, Marca, Giancarlo la 33, Pasquini, Elisabetta 34, Di Gangi, Iole Maria 35, Giordano, Giuseppe 35, Camilot, Marta 36, Teofoli, Francesca 36, Manos, Shawn M. 37, Peterson, Colleen K. 37, Mayfield Gibson, Stephanie K. 38, Sevier, Darrin W. 38, Lee, Soo-Youn 39, Park, Hyung-Doo 39, Khneisser, Issam 40, Browning, Phaidra 41, Gulamali-Majid, Fizza 42, Watson, Michael S. 43, Eaton, Roger B. 44, Sahai, Inderneel 44, Ruiz, Consuelo 45, Torres, Rosario 45, Seeterlin, Mary A. 46, Stanley, Eleanor L. 46, Hietala, Amy 47, McCann, Mark 47, Campbell, Carlene 48, Hopkins, Patrick V. 48, de Sain–Van der Velden, Monique G. 49, Elvers, Bert 50, Morrissey, Mark A. 51, Sunny, Sherlykutty 51, Knoll, Detlef 52, Webster, Dianne 52, Frazier, Dianne M. 53, McClure, Julie D. 53, Sesser, David E. 54, Willis, Sharon A. 54, Rocha, Hugo 55, Vilarinho, Laura 55, John, Catharine 56, Lim, James 56, Caldwell, S. Graham 57, Tomashitis, Kathy 57, Castiñeiras Ramos, Daisy E. 58, de Juan, Jose Angel Cocho 58, Fernández, Inmaculada Rueda 59, Macías, Raquel Yahyaoui 59, Egea-Mellado, José María 60, González-Gallego, Inmaculada 60, Pecellin, Carmen Delgado 61, Bermejo, Maria Sierra García-Valdecasas 61, Chien, Yin-Hsiu 62, Hwu, Wuh-Liang 62, Childs, Thomas 63, McKeever, Christine D. 63, Tanyalcin, Tijen 64, Abdulrahman, Mahera 65, Queijo, Cecilia 66, Lemes, Aída 66, Davis, Tim 67, Hoffman, William 67, Baker, Mei 68, Hoffman, Gary L. 68
Publikováno v: In Genetics in Medicine July 2012 14(7):648-655
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2
Akademický článek
Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project
Autor: McHugh, David M.S. 1, Cameron, Cynthia A. 2, Abdenur, Jose E. 3, Abdulrahman, Mahera 4, Adair, Ona 5, Al Nuaimi, Shahira Ahmed 4, Åhlman, Henrik 6, Allen, Jennifer J. 7, Antonozzi, Italo 8, Archer, Shaina 9, Au, Sylvia 10, Auray-Blais, Christiane 11, Baker, Mei 12, Bamforth, Fiona 9, Beckmann, Kinga 13, Pino, Gessi Bentz 1, Berberich, Stanton L. 14, Binard, Robert 15, Boemer, François 16, Bonham, Jim 17, Breen, Nancy N. 18, Bryant, Sandra C. 1, Caggana, Michele 19, Caldwell, S. Graham 20, Camilot, Marta 21, Campbell, Carlene 22, Carducci, Claudia 8, Cariappa, Rohit 23, Carlisle, Clover 24, Caruso, Ubaldo 25, Cassanello, Michela 25, Castilla, Ane Miren 26, Ramos, Daisy E Castiñeiras 27, Chakraborty, Pranesh 28, Chandrasekar, Ram 29, Ramos, Alfredo Chardon 30, Cheillan, David 31, Chien, Yin-Hsiu 32, Childs, Thomas A. 33, Chrastina, Petr 34, Sica, Yuri Cleverthon 35, de Juan, Jose Angel Cocho 27, Colandre, Maria Elena 36, Espinoza, Veronica Cornejo 37, Corso, Gaetano 38, Currier, Robert 39, Cyr, Denis 11, Czuczy, Noemi 40, D'Apolito, Oceania 38, Davis, Tim 41, de Sain-Van der Velden, Monique G. 42, De Pecellin, Carmen lgado 43, Di Gangi, Iole Maria 44, Di Stefano, Cristina Maria 45, Dotsikas, Yannis 46, Downing, Melanie 17, Downs, Stephen M. 47, Dy, Bonifacio 48, Dymerski, Mark 49, Rueda, Inmaculada 50, Elvers, Bert 51, Eaton, Roger 52, Eckerd, Barbara M. 53, El Mougy, Fatma 54, Eroh, Sarah 55, Espada, Mercedes 26, Evans, Catherine 56, Fawbush, Sandy 57, Fijolek, Kristel F. 53, Fisher, Lawrence 28, Franzson, Leifur 58, Frazier, Dianne M. 59, Garcia, Luciana R.C. 60, Bermejo, Maria Sierra García-Valdecasas 43, Gavrilov, Dimitar 1, Gerace, Rosemarie 61, Giordano, Giuseppe 44, Irazabal, Yolanda González 62, Greed, Lawrence C. 63, Grier, Robert 64, Grycki, Elyse 1, Gu, Xuefan 65, Gulamali-Majid, Fizza 66, Hagar, Arthur F. 67, Han, Lianshu 65, Hannon, W. Harry 68, Haslip, Christa 69, Hassan, Fayza Abdelhamid 54, He, Miao 70, Hietala, Amy 71, Himstedt, Leslie 55, Hoffman, Gary L. 13, Hoffman, William 41, Hoggatt, Philis 72, Hopkins, Patrick V. 22, Hougaard, David M. 73, Hughes, Kerie 2, Hunt, Patricia R. 74, Hwu, Wuh-Liang 32, Hynes, June 75, Ibarra-González, Isabel 76, Ingham, Cindy A. 77, Ivanova, Maria 78, Jacox, Ward B. 79, John, Catharine 80, Johnson, John P. 81, Jónsson, Jón j 58, Karg, Eszter 82, Kasper, David 83, Klopper, Brenda 84, Katakouzinos, Dimitris 85, Khneisser, Issam 86, Knoll, Detlef 87, Kobayashi, Hirinori 88, Koneski, Ronald 74, Kožich, Viktor 34, Kouapei, Rasoul 89, Kohlmueller, Dirk 90, Kremensky, Ivo 78, la Marca, Giancarlo 91, Lavochkin, Marcia 92, Lee, Soo-Youn 93, Lehotay, Denis C. 94, Lemes, Aida 95, Lepage, Joyce 94, Lesko, Barbara 18, Lewis, Barry 63, Lim, Carol 96, Linard, Sharon 29, Lindner, Martin 90, Lloyd-Puryear, Michele A. 97, Lorey, Fred 39, Loukas, Yannis L. 46, Luedtke, Julie 98, Maffitt, Neil 1, Magee, J. Fergall 89, Manning, Adrienne 99, Manos, Shawn 100, Marie, Sandrine 101, Hadachi, Sônia Marchezi 60, Marquardt, Gregg 1, Martin, Stephen J. 56, Matern, Dietrich 1, Gibson, Stephanie K. Mayfield 57, Mayne, Philip 102, McCallister, Tonya D. 7, McCann, Mark 71, McClure, Julie 59, McGill, James J. 103, McKeever, Christine D. 33, McNeilly, Barbara 104, Morrissey, Mark A. 19, Moutsatsou, Paraskevi 105, Mulcahy, Eleanor A. 106, Nikoloudis, Dimitris 107, Norgaard-Pedersen, Bent 73, Oglesbee, Devin 1, Oltarzewski, Mariusz 108, Ombrone, Daniela 109, Ojodu, Jelili 110, Papakonstantinou, Vagelis 85, Reoyo, Sherly Pardo 30, Park, Hyung-Doo 93, Pasquali, Marzia 111, Pasquini, Elisabetta 91, Patel, Pallavi 112, Pass, Kenneth A. 113, Peterson, Colleen 100, Pettersen, Rolf D. 114, Pitt, James J. 115, Poh, Sherry 80, Pollak, Arnold 83, Porter, Cory 49, Poston, Philip A. 116, Price, Ricky W. 117, Queijo, Cecilia 95, Quesada, Jonessy 118, Randell, Edward 75, Ranieri, Enzo 61, Raymond, Kimiyo 1, Reddic, John E. 20, Reuben, Alejandra 118, Ricciardi, Charla 119, Rinaldo, Piero 1, *, Rivera, Jeff D. 120, Roberts, Alicia 121, Rocha, Hugo 122, Roche, Geraldine 102, Greenberg, Cheryl Rochman 123, Mellado, José María Egea 124, Juan-Fita, María Jesús 124, Ruiz, Consuelo 125, Ruoppolo, Margherita 109, Rutledge, S. Lane 121, Ryu, Euijung 1, Saban, Christine 31, Sahai, Inderneel 52, García-Blanco, Maria Isabel Salazar 62, Santiago-Borrero, Pedro 30, Schenone, Andrea 36, Schoos, Roland 16, Schweitzer, Barb 126, Scott, Patricia 24, Seashore, Margretta R. 127, Seeterlin, Mary A. 128, Sesser, David E. 129, Sevier, Darrin W. 57, Shone, Scott M. 112, Sinclair, Graham 130, Skrinska, Victor A. 131, Stanley, Eleanor L. 128, Strovel, Erin T. 132, Jones, April L Studinski 1, Sunny, Sherlykutty 19, Takats, Zoltan 40, Tanyalcin, Tijen 133, Teofoli, Francesca 21, Thompson, J. Robert 123, Tomashitis, Kathy 20, Domingos, Mouseline Torquado 35, Torres, Jasmin 48, Torres, Rosario 125, Tortorelli, Silvia 1, Turi, Sandor 82, Turner, Kimberley 134, Tzanakos, Nick 115, Valiente, Alf G. 37, Vallance, Hillary 130, Vela-Amieva, Marcela 135, Vilarinho, Laura 122, von Döbeln, Ulrika 6, Vincent, Marie-Francoise 101, Vorster, B. Chris 84, Watson, Michael S. 136, Webster, Dianne 87, Weiss, Sheila 41, Wilcken, Bridget 96, Wiley, Veronica 96, Williams, Sharon K. 137, Willis, Sharon A. 129, Woontner, Michael 15, Wright, Katherine 138, Yahyaoui, Raquel 50, Yamaguchi, Seiji 88, Yssel, Melissa 139, Zakowicz, Wendy M. 79
Publikováno v: In Genetics in Medicine March 2011 13(3):230-254
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4
Akademický článek
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
Autor: Carducci Claudia, Carducci Carla, Santagata Silvia, Adriano Enrico, Artiola Cristiana, Thellung Stefano, Gatta Elena, Robello Mauro, Florio Tullio, Antonozzi Italo, Leuzzi Vincenzo, Balestrino Maurizio
Publikováno v: BMC Neuroscience, Vol 13, Iss 1, p 41 (2012)
Abstract Background 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 normal functioning of the brain. These putatively rare diseases share a co
Externí odkaz: https://doaj.org/article/15bd1efff5104bfbacd1463a5d4b5d0b
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5
Akademický článek
Two New Severe Mutations Causing Guanidinoacetate Methyltransferase Deficiency
Autor: Carducci, Carla a, Leuzzi, Vincenzo b, Carducci, Claudia a, Prudente, Sabrina a, Mercuri, Luana a, Antonozzi, Italo a
Publikováno v: In Molecular Genetics and Metabolism December 2000 71(4):633-638
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6
Tyrosine Hydroxylase Deficiency Presenting with a Biphasic Clinical Course
Autor: Giovanniello, T., Leuzzi, Vincenzo, Carducci, Claudia, Carducci, Carla, Sabato, M. L., Artiola, C., Santagata, S., Pozzessere, Simone, Antonozzi, Italo
Publikováno v: Neuropediatrics. 38:213-215
Tyrosine hydroxylase deficiency, a cause of the autosomal recessive form of L-DOPA responsive dystonia, has been associated with a broad spectrum of movement disorders and clinical courses. We describe a new patient presenting with an early onset spa
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6e4d7fda91a3128be4678bb8ba1d76e8
https://doi.org/10.1055/s-2007-991151
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