Bibliotecas PUC-SP - Busca Integrada

Los abuelos favoritos desde la percepción de preadolescentes de la ciudad de Armenia

di María Claudia Ruiz-Soto, Olga Mercedes Pineda-Chacón, Sandra Milena Valencia-Restrepo
Pubblicato in Revista de Investigaciones Universidad del Quindío (2009-12-01)

Treatment outcomes following continuous miglustat therapy in patients with Niemann-Pick disease Type C: a final report of the NPC Registry

di Marc C. Patterson, Eugen Mengel, Marie T. Vanier, Patrick Moneuse, Daniel Rosenberg, Mercedes Pineda
Pubblicato in Orphanet Journal of Rare Diseases (2020-04-01)

Evaluation of different suspicion indices in identifying patients with Niemann-Pick disease Type C in clinical practice: a post hoc analysis of a retrospective chart review

di Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolniková, Věra Malinová, Juan Torres, Stefan A. Kolb
Pubblicato in Orphanet Journal of Rare Diseases (2019-07-01)

Disease characteristics, prognosis and miglustat treatment effects on disease progression in patients with Niemann-Pick disease Type C: an international, multicenter, retrospective...

di Mercedes Pineda, Katarína Juríčková, Parvaneh Karimzadeh, Miriam Kolnikova, Vera Malinova, Jose Luis Insua, Christian Velten, Stefan A. Kolb
Pubblicato in Orphanet Journal of Rare Diseases (2019-02-01)

PERCEPCIÓN DE LA CULTURA DE LA SEGURIDAD DE LOS PACIENTES POR PERSONAL DE ENFERMERÍA

di Hortensia Castañeda-Hidalgo, Rosalinda Garza Hernández, Juana Fernanda González Salinas, Mercedes Pineda Zúñiga, Gloria Acevedo Porras, Angélica Aguilera Pérez
Pubblicato in Ciencia y Enfermería

Abnormal expression of cerebrospinal fluid cation chloride cotransporters in patients with Rett syndrome.

di Sofia Temudo Duarte, Judith Armstrong, Ana Roche, Carlos Ortez, Ana Pérez, Maria del Mar O'Callaghan, Antonina Pereira, Francesc Sanmartí, Aida Ormazábal, Rafael Artuch, Mercedes Pineda, Angels García-Cazorla
Pubblicato in PLoS ONE (2013-01-01)

Clinical disease characteristics of patients with Niemann-Pick Disease Type C: findings from the International Niemann-Pick Disease Registry (INPDR)

di Shaun C. Bolton, Vina Soran, Mercedes Pineda Marfa, Jackie Imrie, Paul Gissen, Helena Jahnova, Reena Sharma, Simon Jones, Saikat Santra, Ellen Crushell, Miriam Stampfer, Maria Jose Coll, Charlotte Dawson, Toni Mathieson, James Green, Andrea Dardis, Bruno Bembi, Marc C. Patterson, Marie T. Vanier, Tarekegn Geberhiwot
Pubblicato in Orphanet Journal of Rare Diseases (2022-02-01)

GDF-15 Is Elevated in Children with Mitochondrial Diseases and Is Induced by Mitochondrial Dysfunction.

di Raquel Montero, Delia Yubero, Joan Villarroya, Desiree Henares, Cristina Jou, Maria Angeles Rodríguez, Federico Ramos, Andrés Nascimento, Carlos Ignacio Ortez, Jaume Campistol, Belen Perez-Dueñas, Mar O'Callaghan, Mercedes Pineda, Angeles Garcia-Cazorla, Jaume Colomer Oferil, Julio Montoya, Eduardo Ruiz-Pesini, Sonia Emperador, Marija Meznaric, Laura Campderros, Susana G Kalko, Francesc Villarroya, Rafael Artuch, Cecilia Jimenez-Mallebrera
Pubblicato in PLoS ONE (2016-01-01)

Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease

di Cristina Jou, Juan D. Ortigoza-Escobar, Maria M. O’Callaghan, Andres Nascimento, Alejandra Darling, Leticia Pias-Peleteiro, Belén Perez-Dueñas, Mercedes Pineda, Anna Codina, César Arjona, Judith Armstrong, Francesc Palau, Antonia Ribes, Laura Gort, Frederic Tort, Placido Navas, Eduardo Ruiz-Pesini, Sonia Emperador, Ester Lopez-Gallardo, Pilar Bayona-Bafaluy, Raquel Montero, Cecilia Jimenez-Mallebrera, Angels Garcia-Cazorla, Julio Montoya, Delia Yubero, Rafael Artuch
Pubblicato in Journal of Clinical Medicine (2019-01-01)

Consensus clinical management guidelines for Niemann-Pick disease type C

di Tarekegn Geberhiwot, Alessandro Moro, Andrea Dardis, Uma Ramaswami, Sandra Sirrs, Mercedes Pineda Marfa, Marie T. Vanier, Mark Walterfang, Shaun Bolton, Charlotte Dawson, Bénédicte Héron, Miriam Stampfer, Jackie Imrie, Christian Hendriksz, Paul Gissen, Ellen Crushell, Maria J. Coll, Yann Nadjar, Hans Klünemann, Eugen Mengel, Martin Hrebicek, Simon A. Jones, Daniel Ory, Bruno Bembi, Marc Patterson, on behalf of the International Niemann-Pick Disease Registry (INPDR)
Pubblicato in Orphanet Journal of Rare Diseases (2018-04-01)

Clinical Guidelines for Management of Bone Health in Rett Syndrome Based on Expert Consensus and Available Evidence.

di Amanda Jefferson, Helen Leonard, Aris Siafarikas, Helen Woodhead, Sue Fyfe, Leanne M Ward, Craig Munns, Kathleen Motil, Daniel Tarquinio, Jay R Shapiro, Torkel Brismar, Bruria Ben-Zeev, Anne-Marie Bisgaard, Giangennaro Coppola, Carolyn Ellaway, Michael Freilinger, Suzanne Geerts, Peter Humphreys, Mary Jones, Jane Lane, Gunilla Larsson, Meir Lotan, Alan Percy, Mercedes Pineda, Steven Skinner, Birgit Syhler, Sue Thompson, Batia Weiss, Ingegerd Witt Engerström, Jenny Downs
Pubblicato in PLoS ONE (2016-01-01)

Analysis of the Phenotypes in the Rett Networked Database

di Elisa Frullanti, Filomena T. Papa, Elisa Grillo, Angus Clarke, Bruria Ben-Zeev, Mercedes Pineda, Nadia Bahi-Buisson, Thierry Bienvenu, Judith Armstrong, Ana Roche Martinez, Francesca Mari, Andreea Nissenkorn, Caterina Lo Rizzo, Edvige Veneselli, Silvia Russo, Aglaia Vignoli, Giorgio Pini, Milena Djuric, Anne-Marie Bisgaard, Kirstine Ravn, Vlatka Mejaski Bosnjak, Joussef Hayek, Rajni Khajuria, Barbara Montomoli, Francesca Cogliati, Maria Pintaudi, Kinga Hadzsiev, Dana Craiu, Victoria Voinova, Aleksandra Djukic, Laurent Villard, Alessandra Renieri
Pubblicato in International Journal of Genomics (2019-01-01)

SLK is mutated in individuals with a neurodevelopmental disorderResearch in context

di Lama Alabdi, Norah Altuwaijri, Jun-yi Zhu, Stephanie Efthymiou, Hangnoh Lee, Jianli Duan, Israa Salem, Piao Yu, Nor Linda Abdullah, Fatema Alzahrani, Qing Xu, Mashael M. Felemban, Abdullah Alfaifi, Fatima Rahman, Marilena Christoforou, Shazia Maqbool, Julian A. Martinez-Agosto, Hessa S. Alsaif, Mais Hashem, Rana Helaby, Ahood Alsulaiman, Reza Maroofian, Henry Houlden, Stefan T. Arold, Leena A. Ibrahim, Zhe Han, Fowzan S. Alkuraya, Stanislav Groppa, Blagovesta Marinova Karashova, Wolfgang Nachbauer, Sylvia Boesch, Larissa Arning, Dagmar Timmann, Bru Cormand, Belen Pérez-Dueñas, Gabriella Di Rosa, Jatinder S. Goraya, Tipu Sultan, Jun Mine, Daniela Avdjieva, Hadil Kathom, Radka Tincheva, Selina Banu, Mercedes Pineda-Marfa, Pierangelo Veggiotti, Michel D. Ferrari, Alberto Verrotti, Giangluigi Marseglia, Salvatore Savasta, Mayte García-Silva, Alfons Macaya Ruiz, Barbara Garavaglia, Eugenia Borgione, Simona Portaro, Benigno Monteagudo Sanchez, Richard Boles, Savvas Papacostas, Michail Vikelis, Eleni Zamba Papanicolaou, Efthymios Dardiotis, Shahnaz Ibrahim, Salman Kirmani, Nuzhat Noureen Rana, Osama Atawneh, George Koutsis, Marianthi Breza, Salvatore Mangano, Carmela Scuderi, Eugenia Borgione, Giovanna Morello, Tanya Stojkovic, Massimo Zollo, Gali Heimer, Yves A. Dauvilliers, Pasquale Striano, Issam Al-Khawaja, Fuad Al-Mutairi, Sherifa Ahmed Hamed, Mohamed A. Abd El Hamed, Samson Khachatryan, Ulviyya Guliyeva, Sughra Guliyeva, Kamran Salayev, Georgia Xiromerisiou, Liana Fidani, Cleanthe Spanaki, Mhammed Aguennouz, Gabriella Silvestri, Chingiz Shashkin, Nazira Zharkynbekova, Kairgali Koneyev, Abdullah Al-Ajmi, Shen-Yang Lim, Farooq Shaikh, Mohamed El Khorassani, Arn M.J.M. van den Maagdenberg, Njideka U. Okubadejo, Oluwadamilola O. Ojo, Kolawole Wahab, Abiodun H. Bello, Sanni Abubakar, Yahaya Obiabo, Ernest Nwazor, Oluchi Ekenze, Uduak Williams, Alagoma Iyagba, Lolade Taiwo, Morenikeji Komolafe, Olapeju Oguntunde, Konstantin Senkevich, Ganieva Manizha, Maksud Isrofilov, Erin Torti, Maha Zaki, Hoda Tomoum, Amira Nabil, Paola Nicolaides, Shahzad Haider, Dana Hasbini, Chadi el Alam, Mona Huneineh, Faisal Zafar, Erum Afzal, Ilyas Muhammad, Atchayaram Nalini, Sofia Bakhtaze, Shahid Baig, Ben Issa, Chahnez Triki, Mussa Bassam, Dana Craiou, Meriem Tazir, Lamia Ali Patcha, Nebal Waill Saadi, Hanene Benrhouma, Payam Saraf, Khalid Hama Salih, Awatif
Pubblicato in EBioMedicine (2025-06-01)