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1دورية أكاديمية
المؤلفون: Albero Burlina, Serena Gasperini, Giancarlo la Marca, Andrea Pession, Barbara Siri, Marco Spada, Margherita Ruoppolo, Albina Tummolo
المصدر: Nutrients, Vol 16, Iss 1, p 13 (2023)
مصطلحات موضوعية: urea cycle disorders, expanded newborn screening, nitrogen scavengers, follow-up, Nutrition. Foods and food supply, TX341-641
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Francesca Tucci, Giulia Consiglieri, Chiara Filisetti, Maurizio De Pellegrin, Renata Mellone, Francesca Fumagalli, Silvia Darin, Marina Sarzana, Stefano Scarparo, Francesca Ciotti, Paolo Silvani, Cristina Baldoli, Silvia Pontesilli, Rossella Parini, Giancarlo la Marca, Fabio Ciceri, Luigi Naldini, Alessandro Aiuti, Bernhard Gentner, Maria Ester Bernardo
المصدر: HemaSphere, Vol 7, p e1995859 (2023)
مصطلحات موضوعية: Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Federico A. Moretti, Giuliana Giardino, Teresa C. H. Attenborough, Athina Soragia Gkazi, Ben K. Margetts, Giancarlo la Marca, Lynette Fairbanks, Tessa Crompton, H. Bobby Gaspar
المصدر: Scientific Reports, Vol 11, Iss 1, Pp 1-17 (2021)
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2045-2322
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4دورية أكاديمية
المؤلفون: Elisa Lastrucci, Marta Daniotti, Elena Procopio, Giusi Scaturro, Flavia Tubili, Rosanna Martin, Giancarlo la Marca
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 3, p 38 (2023)
مصطلحات موضوعية: positive result, newborn screening, familiar stress, Pediatrics, RJ1-570
وصف الملف: electronic resource
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5دورية أكاديمية
المؤلفون: Giancarlo la Marca, Rachel. S. Carling, Stuart. J. Moat, Raquel Yahyaoui, Enzo Ranieri, James. R. Bonham, Peter. C. J. I. Schielen
المصدر: International Journal of Neonatal Screening, Vol 9, Iss 1, p 15 (2023)
مصطلحات موضوعية: neonatal screening, next-generation sequencing, biochemical analysis, SCID screening, cystic fibrosis screening, proteomics, Pediatrics, RJ1-570
وصف الملف: electronic resource
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6دورية أكاديمية
المؤلفون: Riccardo Lubrano, Alberto Villani, Stefano Berrettini, Paolo Caione, Alberto Chiara, Antonella Costantino, Roberto Formigari, Emilio Franzoni, Guido Castelli Gattinara, Arturo Giustardi, Giancarlo La Marca, Paolo Lionetti, Mario Lima, Claudio Maffei, Monica Malamisura, Giantonio Manzoni, Gian Luigi Marseglia, Antonio Memeo, Fabio Mosca, Giovanna Perricone, Licia Peruzzi, Giorgio Piacentini, Gabriella Pozzobon, Enrica Riva, Simonetta Tesoro, Giuseppe Zampino, Federica Zanetto, Marco Zecca, Silvia Bloise
المصدر: Italian Journal of Pediatrics, Vol 46, Iss 1, Pp 1-5 (2020)
مصطلحات موضوعية: COVID-19, Pediatric assistance, Children, Telemedicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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7دورية أكاديميةExpanded Newborn Screening in Italy Using Tandem Mass Spectrometry: Two Years of National Experience
المؤلفون: Margherita Ruoppolo, Sabrina Malvagia, Sara Boenzi, Carla Carducci, Carlo Dionisi-Vici, Francesca Teofoli, Alberto Burlina, Antonio Angeloni, Tommaso Aronica, Andrea Bordugo, Ines Bucci, Marta Camilot, Maria Teresa Carbone, Roberta Cardinali, Claudia Carducci, Michela Cassanello, Cinzia Castana, Chiara Cazzorla, Renzo Ciatti, Simona Ferrari, Giulia Frisso, Silvia Funghini, Francesca Furlan, Serena Gasperini, Vincenza Gragnaniello, Chiara Guzzetti, Giancarlo La Marca, Luisa La Spina, Tania Lorè, Concetta Meli, MariaAnna Messina, Amelia Morrone, Francesca Nardecchia, Rita Ortolano, Giancarlo Parenti, Enza Pavanello, Damiana Pieragostino, Sara Pillai, Francesco Porta, Francesca Righetti, Claudia Rossi, Valentina Rovelli, Alessandro Salina, Laura Santoro, Pina Sauro, Maria Cristina Schiaffino, Simonetta Simonetti, Monica Vincenzi, Elisabetta Tarsi, Anna Paola Uccheddu
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 3, p 47 (2022)
مصطلحات موضوعية: aminoacidemias, fatty acid oxidation disorders, inborn errors of metabolism, newborn screening, organic acidemias, urea cycle defects, Pediatrics, RJ1-570
وصف الملف: electronic resource
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8دورية أكاديمية
المؤلفون: Michela Notarangelo, Chiara Zucal, Angelika Modelska, Isabella Pesce, Giorgina Scarduelli, Cristina Potrich, Lorenzo Lunelli, Cecilia Pederzolli, Paola Pavan, Giancarlo la Marca, Luigi Pasini, Paola Ulivi, Himisha Beltran, Francesca Demichelis, Alessandro Provenzani, Alessandro Quattrone, Vito G. D'Agostino
المصدر: EBioMedicine, Vol 43, Iss , Pp 114-126 (2019)
مصطلحات موضوعية: Medicine, Medicine (General), R5-920
وصف الملف: electronic resource
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9دورية أكاديمية
المؤلفون: Marta Peruzzi, Matteo Ramazzotti, Roberta Damiano, Marzia Vasarri, Giancarlo la Marca, Cinzia Arzilli, Raffaele Piumelli, Niccolò Nassi, Donatella Degl'Innocenti
المصدر: Antioxidants, Vol 11, Iss 5, p 929 (2022)
مصطلحات موضوعية: CCHS, rare disease, oxidative stress, urinary biomarkers, Therapeutics. Pharmacology, RM1-950
وصف الملف: electronic resource
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10دورية أكاديمية
المؤلفون: Jaka Sikonja, Urh Groselj, Maurizio Scarpa, Giancarlo la Marca, David Cheillan, Stefan Kölker, Rolf H. Zetterström, Viktor Kožich, Yann Le Cam, Gulcin Gumus, Valentina Bottarelli, Mirjam van der Burg, Eugenie Dekkers, Tadej Battelino, Johan Prevot, Peter C. J. I. Schielen, James R. Bonham
المصدر: International Journal of Neonatal Screening, Vol 8, Iss 2, p 31 (2022)
مصطلحات موضوعية: newborn screening, NBS, rare diseases, access inequality, Europe, Slovenia, Pediatrics, RJ1-570
وصف الملف: electronic resource