Fabry Disease and Central Nervous System Involvement: From Big to Small, from Brain to Synapse

por Cortés-Saladelafont, Elisenda, Fernández-Martín, Julián, Ortolano, Saida
Publicado 2023

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy

por Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad
Publicado 2021

The International Working Group on Neurotransmitter related Disorders (iNTD): A worldwide research project focused on primary and secondary neurotransmitter disorders

por Opladen, Thomas, Cortès-Saladelafont, Elisenda, Mastrangelo, Mario, Horvath, Gabriella, Pons, Roser, Lopez-Laso, Eduardo, Fernández-Ramos, Joaquín A., Honzik, Tomas, Pearson, Toni, Friedman, Jennifer, Scholl-Bürgi, Sabine, Wassenberg, Tessa, Jung-Klawitter, Sabine, Kuseyri, Oya, Jeltsch, Kathrin, Kurian, Manju A., Garcia-Cazorla, Àngels
Publicado 2016

The ethical framework for performing research with rare inherited neurometabolic disease patients

por Giannuzzi, Viviana, Devlieger, Hugo, Margari, Lucia, Odlind, Viveca Lena, Ragab, Lamis, Bellettato, Cinzia Maria, D’Avanzo, Francesca, Lampe, Christina, Cassis, Linda, Cortès-Saladelafont, Elisenda, Cazorla, Ángels Garcia, Barić, Ivo, Cvitanović-Šojat, Ljerka, Fumić, Ksenija, Dali, Christine I, Bartoloni, Franco, Bonifazi, Fedele, Scarpa, Maurizio, Ceci, Adriana
Publicado 2017

Discovery of Biomarker Panels for Neural Dysfunction in Inborn Errors of Amino Acid Metabolism

por Castells, Alba-Aina, Gueraldi, Daniela, Balada, Rafel, Tristán-Noguero, Alba, Cortès-Saladelafont, Elisenda, Ramos, Federico, Meavilla, Silvia, De Los Santos, Mariela, Garcia-Volpe, Camila, Colomé, Roser, Couce, Maria Luz, Sierra, Cristina, Ormazábal, Aida, Batllori, Marta, Artuch, Rafael, Armstrong, Judith, Alcántara, Soledad, Garcia-Cazorla, Àngels
Publicado 2019

Clinical features and health-related quality of life in adult patients with mucopolysaccharidosis IVA: the Spanish experience

por Quijada-Fraile, Pilar, Arranz Canales, Elena, Martín-Hernández, Elena, Ballesta-Martínez, María Juliana, Guillén-Navarro, Encarna, Pintos-Morell, Guillem, Moltó-Abad, Marc, Moreno-Martínez, David, García Morillo, Salvador, Blasco-Alonso, Javier, Couce, María Luz, Gil Sánchez, Ricardo, Cortès-Saladelafont, Elisenda, López Rodríguez, Mónica A., García-Silva, María Teresa, Morales Conejo, Montserrat
Publicado 2021

The impact of COVID-19 pandemic on the diagnosis and management of inborn errors of metabolism: A global perspective

por Elmonem, Mohamed A., Belanger-Quintana, Amaya, Bordugo, Andrea, Boruah, Ritma, Cortès-Saladelafont, Elisenda, Endrakanti, Mounika, Giraldo, Pilar, Grünert, Sarah Catharina, Gupta, Neerja, Kabra, Madhulika, Knerr, Ina, Krämer, Johannes, Kuster, Alice, Levtchenko, Elena, Ngu, Lock-Hock, Rovira-Remisa, M. Mar, Sass, Jörn Oliver, Sykut-Cegielska, Jolanta, Tummolo, Albina, van den Heuvel, Lambertus P.
Publicado 2020

DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia

por Ng, Joanne, Cortès‐Saladelafont, Elisenda, Abela, Lucia, Termsarasab, Pichet, Mankad, Kshitij, Sudhakar, Sniya, Gorman, Kathleen M., Heales, Simon J.R., Pope, Simon, Biassoni, Lorenzo, Csányi, Barbara, Cain, John, Rakshi, Karl, Coutts, Helen, Jayawant, Sandeep, Jefferson, Rosalind, Hughes, Deborah, García‐Cazorla, Àngels, Grozeva, Detelina, Raymond, F. Lucy, Pérez‐Dueñas, Belén, De Goede, Christian, Pearson, Toni S., Meyer, Esther, Kurian, Manju A.
Publicado 2020

Impact of COVID19 pandemic on patients with rare diseases in Spain, with a special focus on inherited metabolic diseases

por Rovira-Remisa, M. Mar, Moreira, Mónica, Ventura, Paula Sol, Gonzalez-Alvarez, Pablo, Mestres, Núria, Graterol Torres, Fredzzia, Joaquín, Clara, Seuma, Agustí Rodríguez-Palmero, del Mar Martínez-Colls, Maria, Roche, Ana, Ibáñez-Micó, Salvador, López-Laso, Eduardo, Méndez-Hernández, María Jesús, Murillo, Marta, Monlleó-Neila, Laura, Maqueda-Castellote, Elena, del Toro Riera, Mireia, Felipe-Rucián, Ana, Giralt-López, Maria, Cortès-Saladelafont, Elisenda
Publicado 2023

Impact of the SARS‐CoV‐2 pandemic on the health of individuals with intoxication‐type metabolic diseases—Data from the E‐IMD consortium

por Mütze, Ulrike, Gleich, Florian, Barić, Ivo, Baumgartner, Mathias, Burlina, Alberto, Chapman, Kimberly A., Chien, Yin‐Hsiu, Cortès‐Saladelafont, Elisenda, De Laet, Corinne, Dobbelaere, Dries, Eysken, Francois, Gautschi, Matthias, Santer, Rene, Häberle, Johannes, Joaquín, Clara, Karall, Daniela, Lindner, Martin, Lund, Allan M., Mühlhausen, Chris, Murphy, Elaine, Roland, Dominique, Ruiz Gomez, Angeles, Skouma, Anastasia, Grünert, Sarah C., Wagenmakers, Margreet, Garbade, Sven F., Kölker, Stefan, Boy, Nikolas
Publicado 2022

Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH(4)) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020

Correction to: Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH4) deficiencies

por Opladen, Thomas, López-Laso, Eduardo, Cortès-Saladelafont, Elisenda, Pearson, Toni S., Sivri, H. Serap, Yildiz, Yilmaz, Assmann, Birgit, Kurian, Manju A., Leuzzi, Vincenzo, Heales, Simon, Pope, Simon, Porta, Francesco, García-Cazorla, Angeles, Honzík, Tomáš, Pons, Roser, Regal, Luc, Goez, Helly, Artuch, Rafael, Hoffmann, Georg F., Horvath, Gabriella, Thöny, Beat, Scholl-Bürgi, Sabine, Burlina, Alberto, Verbeek, Marcel M., Mastrangelo, Mario, Friedman, Jennifer, Wassenberg, Tessa, Jeltsch, Kathrin, Kulhánek, Jan, Kuseyri Hübschmann, Oya
Publicado 2020

Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Herrero, Aida Ormazabal, Fons, Carme, Jou, Cristina, Sierra, Cristina, Castejon Ponce, Esperanza, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Olivas, Silvia Maria Meavilla, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I, D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Cazorla, Ángels Garcia-
Publicado 2015

Erratum to: Review and evaluation of the methodological quality of the existing guidelines and recommendations for inherited neurometabolic disorders

por Cassis, Linda, Cortès-Saladelafont, Elisenda, Molero-Luis, Marta, Yubero, Delia, González, Maria Julieta, Ormazábal, Aida, Fons, Carme, Jou, Cristina, Sierra, Cristina, Ponce, Esperanza Castejon, Ramos, Federico, Armstrong, Judith, O’Callaghan, M. Mar, Casado, Mercedes, Montero, Raquel, Meavilla-Olivas, Silvia, Artuch, Rafael, Barić, Ivo, Bartoloni, Franco, Bellettato, Cinzia Maria, Bonifazi, Fedele, Ceci, Adriana, Cvitanović-Šojat, Ljerka, Dali, Christine I., D’Avanzo, Francesca, Fumic, Ksenija, Giannuzzi, Viviana, Lampe, Christina, Scarpa, Maurizio, Garcia-Cazorla, Ángels
Publicado 2016

Insights into the expanding phenotypic spectrum of inherited disorders of biogenic amines

por Kuseyri Hübschmann, Oya, Horvath, Gabriella, Cortès-Saladelafont, Elisenda, Yıldız, Yılmaz, Mastrangelo, Mario, Pons, Roser, Friedman, Jennifer, Mercimek-Andrews, Saadet, Wong, Suet-Na, Pearson, Toni S., Zafeiriou, Dimitrios I., Kulhánek, Jan, Kurian, Manju A., López-Laso, Eduardo, Oppebøen, Mari, Kılavuz, Sebile, Wassenberg, Tessa, Goez, Helly, Scholl-Bürgi, Sabine, Porta, Francesco, Honzík, Tomáš, Santer, René, Burlina, Alberto, Sivri, H. Serap, Leuzzi, Vincenzo, Hoffmann, Georg F., Jeltsch, Kathrin, Hübschmann, Daniel, Garbade, Sven F., García-Cazorla, Angeles, Opladen, Thomas
Publicado 2021