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MiR-21-5p and miR-223-3p as Treatment Response Biomarkers in Pediatric Eosinophilic Esophagitis MiR-21-5p和miR-223-3p作为儿童嗜酸性食管炎治疗反应的生物标志物 Tarallo, Antonietta; Casertano, Marianna; Valanzano, Anna; Cenni, Sabrina; Creoli, Mara; Russo, Giuseppina; Damiano, Carla; Carissimo, Annamaria; Cioce, Alessandro; Martinelli, Massimo; Miele, Erasmo; Staiano, Annamaria; Iafusco, Dario; Parenti, Giancarlo; Strisciuglio, Caterina 分享 收藏
The Light and the Dark Side of Maternal PKU: Single-Centre Experience of Dietary Management and Emergency Treatment Protocol of Unplanned Pregnancies 母源性PKU的光明面与阴暗面：单中心关于未计划妊娠的饮食管理和急诊治疗方案的实践经验 Gautiero, Claudia; Scala, Iris; Esposito, Giulia; Coppola, Maria Rosaria; Cacciapuoti, Nunzia; Fisco, Mariagrazia; Ruoppolo, Margherita; Strisciuglio, Pietro; Parenti, Giancarlo; Guida, Bruna 分享 收藏
Miglustat: A first-in-class enzyme stabilizer for late-onset Pompe disease Hopkin, Robert J.; Byrne, Barry J.; Dimachkie, Mazen M.; Kishnani, Priya s.; Mozaffar, Tahseen; Roberts, Mark; Schoser, Benedikt; van der Ploeg, Ans t.; Brudvig, Jon; Fox, Brian; Holdbrook, Fred; Jaini, Vipul; Johnson, Franklin; Zhang, Jennifer; Parenti, Giancarlo 分享 收藏
Digital microfluidic platform for dried blood spot newborn screening of lysosomal storage diseases in Campania region (Italy): Findings from the first year pilot project 数字微流控平台，用于坎帕尼亚地区 (意大利) 溶酶体贮积病的干血斑新生儿筛查: 第一年试点项目的发现 Scarcella, Melania; Fecarotta, Simona; Alagia, Marianna; Barretta, Ferdinando; Uomo, Fabiana; De Pasquale, Valeria; Patel, Hari S.; Strisciuglio, Pietro; Parenti, Giancarlo; Frisso, Giulia; Pavone, Luigi Michele; Ruoppolo, Margherita 分享 收藏
Combined biochemical profiling and DNA sequencing in the expanded newborn screening for inherited metabolic diseases: the experience in an Italian reference center Fecarotta, Simona; Vaccaro, Lorenzo; Verde, Alessandra; Alagia, Marianna; Rossi, Alessandro; Colantuono, Chiara; Cacciapuoti, Maria Teresa; Annunziata, Patrizia; Riccardo, Sara; Grimaldi, Antonio; Fusco, Tonya; De Santis, Rosa; Barretta, Fernando; Albano, Lucia; Crisci, Daniela; Vallone, Fabiana; Tarallo, Antonietta; Cesana, Marcella; Brunetti-Pierri, Nicola; Frisso, Giulia; Ruoppolo, Margherita; Cacchiarelli, Davide; Parenti, Giancarlo 分享 收藏
Characterization of a WAS splice-site variant in a patient with Wiskott-Aldrich syndrome Wiskott-aldrich综合征患者的剪接位点变异特征 Toriello, Elisabetta; Maritato, Rosa; De Rosa, Antonio; Esposito, Maria Valeria; Damiano, Carla; Rosano, Carmen; Cirillo, Emilia; Tarallo, Antonietta; Abagnale, Cosimo; Cillo, Francesca; Romano, Roberta; Grilli, Laura; Comegna, Marika; Blasio, Giancarlo; Parenti, Giancarlo; Surace, Enrico Maria; Castaldo, Giuseppe; Pignata, Claudio; Giardino, Giuliana 分享 收藏
Cipaglucosidase alfa plus miglustat: linking mechanism of action to clinical outcomes in late-onset Pompe disease (Volume 15, 1451512, 2024) Cipaglucosidase alfa 联合 Miglustat：将作用机制与迟发型庞贝病的临床结局相联系（卷 15，1451512，2024） Byrne, Barry J.; Parenti, Giancarlo; Schoser, Benedikt; van der Ploeg, Ans T.; Do, Hung; Fox, Brian; Goldman, Mitchell; Johnson, Franklin K.; Kang, Jia; Mehta, Nickita; Mondick, John; Sheikh, M. Osman; Sitaraman Das, Sheela; Tuske, Steven; Brudvig, Jon; Weimer, Jill M.; Mozaffar, Tahseen 分享 收藏
The European reference network for metabolic diseases (MetabERN) clinical pathway recommendations for Pompe disease (acid maltase deficiency, glycogen storage disease type II) Parenti, Giancarlo; Fecarotta, Simona; Alagia, Marianna; Attaianese, Federica; Verde, Alessandra; Tarallo, Antonietta; Gragnaniello, Vincenza; Ziagaki, Athanasia; Guimaraes, Maria Jose'; Aguiar, Patricio; Hahn, Andreas; Azevedo, Olga; Donati, Maria Alice; Kiec-Wilk, Beata; Scarpa, Maurizio; van der Beek, Nadine A. M. E.; Riera, Mireja Del Toro; Germain, Dominique P.; Huidekoper, Hidde; van den Hout, Johanna M. P.; van der Ploeg, Ans T. 分享 收藏
Multi-year enzyme expression in patients with mucopolysaccharidosis type VI after liver-directed gene therapy VI型黏多糖贮积症患者经肝脏靶向基因治疗后多年度酶表达 Rossi, Alessandro; Romano, Roberta; Fecarotta, Simona; Dell'Anno, Margherita; Pecorella, Valentina; Passeggio, Roberta; Zancan, Stefano; Parenti, Giancarlo; Santamaria, Francesca; Borgia, Francesco; Deodato, Federica; Funghini, Silvia; Rupar, Charles A.; Prasad, Chitra; O'Callaghan, Mar; Mitchell, John J.; Valsecchi, Maria Grazia; la Marca, Giancarlo; Galimberti, Stefania; Auricchio, Alberto; Brunetti-Pierri, Nicola 分享 收藏
A specific serum lipid signature characterizes patients with glycogen storage disease type Ia Rossi, Alessandro; Ruoppolo, Margherita; Fedele, Roberta; Pirozzi, Francesca; Rosano, Carmen; Auricchio, Renata; Melis, Daniela; Strisciuglio, Pietro; Oosterveer, Maaike H.; Derks, Terry G. J.; Parenti, Giancarlo; Caterino, Marianna 分享 收藏
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MicroRNA dysregulation in ataxia telangiectasia 共济失调毛细血管扩张症中的MicroRNA失调 Cirillo, Emilia; Tarallo, Antonietta; Toriello, Elisabetta; Carissimo, Annamaria; Giardino, Giuliana; De Rosa, Antonio; Damiano, Carla; Soresina, Annarosa; Badolato, Raffaele; Dellepiane, Rosa Maria; Baselli, Lucia A.; Carrabba, Maria; Fabio, Giovanna; Bertolini, Patrizia; Montin, Davide; Conti, Francesca; Romano, Roberta; Pozzi, Elisa; Ferrero, Giulio; Roncarati, Roberta; Ferracin, Manuela; Brusco, Alfredo; Parenti, Giancarlo; Pignata, Claudio 分享 收藏
Endocrine involvement in hepatic glycogen storage diseases: pathophysiology and implications for care Rossi, Alessandro; Simeoli, Chiara; Pivonello, Rosario; Salerno, Mariacarolina; Rosano, Carmen; Brunetti, Barbara; Strisciuglio, Pietro; Colao, Annamaria; Parenti, Giancarlo; Melis, Daniela; Derks, Terry G. J. 分享 收藏
How dietary advanced glycation end products could facilitate the occurrence of food allergy Paparo, Lorella; Coppola, Serena; Nocerino, Rita; Pisapia, Laura; Picariello, Gianluca; Cortese, Maddalena; Voto, Luana; Maglio, Mariantonia; Miele, Erasmo; Carucci, Laura; Oglio, Franca; Trinchese, Giovanna; Mollica, Maria Pina; Bruno, Cristina; De Vita, Simone; Tarallo, Antonietta; Damiano, Carla; Cerulo, Mariapina; Esposito, Ciro; Fogliano, Vincenzo; Parenti, Giancarlo; Troncone, Riccardo; Canani, Roberto Berni 分享 收藏
Loss of the batten disease protein CLN3 leads to mis-trafficking of M6PR and defective autophagic-lysosomal reformation Calcagni, Alessia; Staiano, Leopoldo; Zampelli, Nicolina; Minopoli, Nadia; Herz, Niculin J.; Di Tullio, Giuseppe; Huynh, Tuong; Monfregola, Jlenia; Esposito, Alessandra; Cirillo, Carmine; Bajic, Aleksandar; Zahabiyon, Mahla; Curnock, Rachel; Polishchuk, Elena; Parkitny, Luke; Medina, Diego Luis; Pastore, Nunzia; Cullen, Peter J.; Parenti, Giancarlo; De Matteis, Maria Antonietta; Grumati, Paolo; Ballabio, Andrea 分享 收藏
Mitochondrial reprogramming in peripheral blood mononuclear cells of patients with glycogen storage disease type Ia Rossi, Alessandro; Assunto, Antonia; Rosano, Carmen; Tucci, Sara; Ruoppolo, Margherita; Caterino, Marianna; Pirozzi, Francesca; Strisciuglio, Pietro; Parenti, Giancarlo; Melis, Daniela 分享 收藏
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