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Understanding the Natural History and the Effects of Current Therapeutic Strategies on Urea Cycle Disorders: Insights from the UCD Spanish Registry 理解尿素循环障碍的自然史及当前治疗策略对其的影响：来自UCD西班牙登记研究的见解 Martin-Hernandez, Elena; Bellusci, Marcello; Perez-Mohand, Patricia; Medina, Patricia Correcher; Blasco-Alonso, Javier; Morais-Lopez, Ana; de las Heras, Javier; Olivas, Silvia Maria Meavilla; Dougherty-de Miguel, Lucy; Couce, Maria Luz; Villarroya, Elvira Canedo; Jimenez, Maria Concepcion Garcia; Moreno-Lozano, Pedro Juan; Vives, Inmaculada; Gil-Campos, Mercedes; Stanescu, Sinziana; Ceberio-Hualde, Leticia; Camprodon, Maria; Cortes-Saladelafont, Elisenda; Lopez-Urdiales, Rafael; Hurtado, Mercedes Murray; Armenteros, Ana Maria Marquez; Corcoles, Concha Sierra; Pena-Quintana, Luis; Ruiz-Pons, Monica; Alcalde, Carlos; Castellanos-Pinedo, Fernando; Dios, Elena; Barrio-Carreras, Delia; Martin-Cazana, Maria; Garcia-Peris, Monica; Andrade, Jose David; Garcia-Volpe, Camila; de los Santos, Mariela; Garcia-Cazorla, Angels; del Toro, Mireia; Felipe-Rucian, Ana; Monroy, Maria Jose Comino; Sanchez-Pintos, Paula; Matas, Ana; Ortega, David Gil; Martin-Rivada, Alvaro; Bergua, Ana; Belanger-Quintana, Amaya; Vitoria, Isidro; Yahyaoui, Raquel; Perez, Belen; Morales-Conejo, Montserrat; Quijada-Fraile, Pilar 分享 收藏
Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease Hidalgo-Gutierrez, Agustin; Shintaku, Jonathan; Ramon, Javier; Barriocanal-Casado, Eliana; Pesini, Alba; Saneto, Russell P.; Garrabou, Gloria; Milisenda, Jose Cesar; Matas-Garcia, Ana; Gort, Laura; Ugarteburu, Olatz; Gu, Yue; Koganti, Lahari; Wang, Tian; Tadesse, Saba; Meneri, Megi; Sciacco, Monica; Wang, Shuang; Tanji, Kurenai; Horwitz, Marshall S.; Dorschner, Michael O.; Mansukhani, Mahesh; Comi, Giacomo Pietro; Ronchi, Dario; Marti, Ramon; Ribes, Antonia; Tort, Frederic; Hirano, Michio 分享 收藏
Clinical Outcomes of Patients with Chronic Neuropathic Form of Gaucher Disease in the Spanish Real-World Setting: A Retrospective Study Stanescu, Sinziana; Medina, Patricia Correcher; del Castillo, Francisco J.; Luengo, Olga Alonso; Millan, Luis Maria Arto; Quintana, Amaya Belanger; Gomez, Maria Camprodon; Langhetee, Lydia Diez; Campos, Oscar Garcia; Garcia, Ana Matas; Perez-Moreno, Jimena; Gribble, Barbara Rubio; Visa-Rene, Nuria; Giraldo-Castellano, Pilar; Gordo, Mar O'Callaghan 分享 收藏
Dermatomyositis unleashed by immune checkpoint inhibitors. Three additional cases and a review of the literature Guerra, Nestor Lopez; Matas-Garcia, Ana; Serra-Garcia, Laura; Morgado-Carrasco, Daniel; Padrosa, Joan; Aldecoa, Iban; Duque, Yaiza; Casal-Dominguez, Maria; Munoz-Braceras, Sandra; Aranega, Raquel; Moreno-Lozano, Pedro; Canto-Santos, Judith; Garrabou, Gloria; Ruiz-Ortiz, Estibaliz; Trallero-Araguas, Ernesto; Selva-O'Callaghan, Albert; Grau, Josep M.; Puig, Susana; Torres-Ruiz, Jiram; Mammen, Andrew L.; Fernandez, Iago Pinal; Milisenda, Jose C. 分享 收藏
Coordinated local RNA overexpression of complement induced by interferon gamma in myositis Casal-Dominguez, Maria; Pinal-Fernandez, Iago; Pak, Katherine; Munoz-Braceras, Sandra; Milisenda, Jose C.; Torres-Ruiz, Jiram; Dell'Orso, Stefania; Naz, Faiza; Gutierrez-Cruz, Gustavo; Duque-Jaimez, Yaiza; Matas-Garcia, Ana; Valls-Roca, Laura; Garrabou, Gloria; Trallero-Araguas, Ernesto; Walitt, Brian; Christopher-Stine, Lisa; Lloyd, Thomas E.; Paik, Julie J.; Albayda, Jemima; Corse, Andrea; Grau, Josep Maria; Selva-O'Callaghan, Albert; Mammen, Andrew L. 分享 收藏
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Emerging PD-1 and PD-1L inhibitors-associated myopathy with a characteristic histopathological pattern Matas-Garcia, Ana; Milisenda, Jose C.; Selva-O'Callaghan, Albert; Prieto-Gonzalez, Sergio; Padrosa, Joan; Cabrera, Carlos; Reguart, Noemi; Castrejon, Natalia; Sole, Manel; Ros, Javier; Trallero-Araguas, Ernesto; Noelia Antoniol, Maria; Vila-Pijoan, Gemma; Maria Grau, Josep 分享 收藏
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