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1دورية أكاديمية
المؤلفون: Barbara Parma, Serena Motta, Erika S. Apuril Velgara, Angelo Selicorni, Lisa Licini, Maurizio Cheli, Lorenzo D'Antiga, Maria Iascone, Emanuele Nicastro, Serena Gasperini
المصدر: Journal of Pediatric and Neonatal Individualized Medicine, Vol 13, Iss 1, Pp e130114-e130114 (2024)
مصطلحات موضوعية: infant, cholestasis, genetic, trmu, mutation, prognosis, Medicine, Pediatrics, RJ1-570
وصف الملف: electronic resource
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2دورية أكاديمية
المؤلفون: Rossana Sanchez Russo, Serena Gasperini, Gillian Bubb, Linda Neuman, Leslie S. Sloan, George A. Diaz, Gregory M. Enns
المصدر: EClinicalMedicine, Vol 68, Iss , Pp 102405- (2024)
مصطلحات موضوعية: Arginine, Arginase 1, ARG1-D, Enzyme therapy, Gross motor function measure, Guanidino compounds, Medicine (General), R5-920
وصف الملف: electronic resource
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3دورية أكاديمية
المؤلفون: Antonio Toscano, Olimpia Musumeci, Michele Sacchini, Sabrina Ravaglia, Gabriele Siciliano, Agata Fiumara, Elena Verrecchia, Melania Maione, Jennifer Gentile, Rita Fischetto, Grazia Crescimanno, Roberta Taurisano, Annalisa Sechi, Serena Gasperini, Vittoria Cianci, Lorenzo Maggi, Rossella Parini, Antonino Lupica, Maurizio Scarpa
المصدر: Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-11 (2023)
مصطلحات موضوعية: Enzyme replacement therapy, Pompe disease, Home therapy, Mucopolysaccharidosis, Treatment adherence, Safety, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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4دورية أكاديمية
المؤلفون: Fabiola Guerra, Serena Gasperini, Sonia Bonanomi, Viola Crescitelli, Roberta Pretese, Lorenzo Da Dalt, Giuseppe Danilo Norata, Marta Balzarini, Andrea Biondi, Andrea Baragetti, Francesco Saettini
المصدر: eJHaem, Vol 4, Iss 2, Pp 551-554 (2023)
مصطلحات موضوعية: empagliflozin, glycogen storage disease type Ib, GSD‐Ib, G6PT, inborn errors of immunity, neutropenia, Diseases of the blood and blood-forming organs, RC633-647.5
وصف الملف: electronic resource
Relation: https://doaj.org/toc/2688-6146
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5دورية أكاديمية
المؤلفون: Margherita Calia, Andrea Mario Luciano Arosio, Viola Crescitelli, Anna Fornari, Roberta Pretese, Serena Gasperini, Giovanna Zuin
المصدر: Therapeutic Advances in Gastroenterology, Vol 16 (2023)
مصطلحات موضوعية: Diseases of the digestive system. Gastroenterology, RC799-869
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1756-2848
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6دورية أكاديمية
المؤلفون: Maurizio Romagnuolo, Chiara Moltrasio, Serena Gasperini, Angelo Valerio Marzano, Stefano Cambiaghi
المصدر: Children, Vol 10, Iss 12, p 1920 (2023)
مصطلحات موضوعية: congenital dermal melanocytosis, Mongolian spot, itch, hypertrichosis, mucopolysaccharidosis type IIIC, Sanfilippo syndrome, Pediatrics, RJ1-570
وصف الملف: electronic resource
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7دورية 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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8دورية أكاديمية
المؤلفون: Francesco Tagliaferri, Miriam Massese, Luisa Russo, Anna Commone, Serena Gasperini, Roberta Pretese, Carlo Dionisi-Vici, Arianna Maiorana
المصدر: Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-9 (2022)
مصطلحات موضوعية: Glycogen storage disease, Liver, Nutrition, Nutritional therapy, Insulin-resistance, Overweight, Medicine
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1750-1172
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9دورية أكاديمية
المؤلفون: Vincenza Gragnaniello, Federica Deodato, Serena Gasperini, Maria Alice Donati, Clementina Canessa, Simona Fecarotta, Antonia Pascarella, Giuseppe Spadaro, Daniela Concolino, Alberto Burlina, Giancarlo Parenti, Pietro Strisciuglio, Agata Fiumara, Roberto Della Casa
المصدر: Italian Journal of Pediatrics, Vol 48, Iss 1, Pp 1-14 (2022)
مصطلحات موضوعية: Pompe disease, CRIM status, Immune tolerance induction, Infusion associated reactions, Desensitization, Pediatrics, RJ1-570
وصف الملف: electronic resource
Relation: https://doaj.org/toc/1824-7288
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10دورية أكاديمية
المؤلفون: Viktor Kožich, Bernd C Schwahn, Jitka Sokolová, Michaela Křížková, Tamas Ditroi, Jakub Krijt, Youssef Khalil, Tomáš Křížek, Tereza Vaculíková-Fantlová, Blanka Stibůrková, Philippa Mills, Peter Clayton, Kristýna Barvíková, Holger Blessing, Jolanta Sykut-Cegielska, Carlo Dionisi-Vici, Serena Gasperini, Ángeles García-Cazorla, Tobias B Haack, Tomáš Honzík, Pavel Ješina, Alice Kuster, Lucia Laugwitz, Diego Martinelli, Francesco Porta, René Santer, Guenter Schwarz, Peter Nagy
المصدر: Redox Biology, Vol 58, Iss , Pp 102517- (2022)
مصطلحات موضوعية: Sulfite oxidase, Molybdenum cofactor, Cystathionine γ-lyase, Cystathionine β-synthase, Sulfide:quinone oxidoreductase, Persulfide dioxygenase, Medicine (General), R5-920, Biology (General), QH301-705.5
وصف الملف: electronic resource