نتائج البحث - Cortès-Saladelafont, Elisenda

Unraveling Molecular Pathways Altered in MeCP2-Related Syndromes, in the Search for New Potential Avenues for Therapy حسب Castells, Alba-Aina, Balada, Rafel, Tristán-Noguero, Alba, O’Callaghan, Mar, Cortès-Saladelafont, Elisenda, Pascual-Alonso, Ainhoa, Garcia-Cazorla, Àngels, Armstrong, Judith, Alcántara, Soledad

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

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

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

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

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

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DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism‐Dystonia حسب 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.

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

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

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

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

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