Found: 21

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  • Gamma-aminobutyric acid levels in cerebrospinal fluid in neuropaediatric disorders.

    Published in:
    2018
    By:
    • Cortès‐Saladelafont, Elisenda;
    • Molero‐Luis, Marta;
    • Cuadras, Daniel;
    • Casado, Mercedes;
    • Armstrong‐Morón, Judith;
    • Yubero, Dèlia;
    • Montoya, Julio;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Institut De Recerca Sant Joan De Déu Working Group;
    • Cortès-Saladelafont, Elisenda;
    • Molero-Luis, Marta;
    • Armstrong-Morón, Judith;
    • García-Cazorla, Àngels
    Publication type:
    journal article

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

    Published in:
    2015
    By:
    • Cassis, Linda;
    • Cortès-Saladelafont, Elisenda;
    • Molero-Luis, Marta;
    • Yubero, Delia;
    • González, Maria Julieta;
    • Herrero, Aida Ormazabal;
    • Fons, Carme;
    • Jou, Cristina;
    • Sierra, Cristina;
    • Ponce, Esperanza Castejon;
    • Ramos, Federico;
    • Armstrong, Judith;
    • Mar O'Callaghan, M.;
    • Casado, Mercedes;
    • Montero, Raquel;
    • Meavilla Olivas, Silvia Maria;
    • Artuch, Rafael;
    • Barić, Ivo;
    • Bartoloni, Franco;
    • Bellettato, Cinzia Maria
    Publication type:
    journal article

  • Volumetric study of brain MRI in a cohort of patients with neurotransmitter disorders.

    Published in:
    Neuroradiology, 2022, v. 64, n. 11, p. 2179, doi. 10.1007/s00234-022-02989-8
    By:
    • Alfonsi, Chiara;
    • Stephan-Otto, Christian;
    • Cortès-Saladelafont, Elisenda;
    • Palacios, Natalia Juliá;
    • Podzamczer-Valls, Inés;
    • Cruz, Nuria Gutiérrez;
    • Jiménez, María Rosario Domingo;
    • Micó, Salvador Ibáñez;
    • Vila, Miguel Tomás;
    • Jeltsch, Kathrin;
    • Hübschmann, Oya Kuseyri;
    • Opladen, Thomas;
    • Fragua, Ramón Velázquez;
    • Gómez, Teresa;
    • Fortuny, Oscar Alcoverro;
    • Jiménez, Inmaculada García;
    • Laso, Eduardo López;
    • Martínez, Ana Roche;
    • López, Jordi Muchart;
    • Garcia-Cazorla, Àngels
    Publication type:
    Article

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

    Published in:
    2017
    By:
    • Giannuzzi, Viviana;
    • Devlieger, Hugo;
    • Margari, Lucia;
    • Odlind, Viveca;
    • Ragab, Lamis;
    • Bellettato, Cinzia;
    • D'Avanzo, Francesca;
    • Lampe, Christina;
    • Cassis, Linda;
    • Cortès-Saladelafont, Elisenda;
    • Cazorla, Ángels;
    • Barić, Ivo;
    • Cvitanović-Šojat, Ljerka;
    • Fumić, Ksenija;
    • Dali, Christine;
    • Bartoloni, Franco;
    • Bonifazi, Fedele;
    • Scarpa, Maurizio;
    • Ceci, Adriana;
    • Odlind, Viveca Lena
    Publication type:
    journal article

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

    Published in:
    Nature Communications, 2021, v. 12, n. 1, p. 1, doi. 10.1038/s41467-021-25515-5
    By:
    • Hübschmann, Oya Kuseyri;
    • Horvath, Gabriella;
    • Cortès-Saladelafont, Elisenda;
    • Yıldız, Yılmaz;
    • Mastrangelo, Mario;
    • Pons, Roser;
    • Friedman, Jennifer;
    • Mercimek-Andrews, Saadet;
    • Suet-Na Wong;
    • 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
    Publication type:
    Article

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

    Published in:
    Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-45674-2
    By:
    • 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
    Publication type:
    Article

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

    Published in:
    2021
    By:
    • 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
    Publication type:
    journal article

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

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article

  • Consensus guideline for the diagnosis and treatment of tetrahydrobiopterin (BH<sub>4</sub>) deficiencies.

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article

  • Integrative Approach to Predict Severity in Nonketotic Hyperglycinemia.

    Published in:
    Annals of Neurology, 2022, v. 92, n. 2, p. 292, doi. 10.1002/ana.26423
    By:
    • Hübschmann, Oya Kuseyri;
    • Juliá‐Palacios, Natalia Alexandra;
    • Olivella, Mireia;
    • Guder, Philipp;
    • Zafeiriou, Dimitrios I.;
    • Horvath, Gabriella;
    • Kulhánek, Jan;
    • Pearson, Toni S.;
    • Kuster, Alice;
    • Cortès‐Saladelafont, Elisenda;
    • Ibáñez, Salvador;
    • García‐Jiménez, Maria Concepción;
    • Honzík, Tomáš;
    • Santer, René;
    • Jeltsch, Kathrin;
    • Garbade, Sven F.;
    • Hoffmann, Georg F.;
    • Opladen, Thomas;
    • García‐Cazorla, Ángeles
    Publication type:
    Article

  • Monoamine neurotransmitters in early epileptic encephalopathies: New insights into pathophysiology and therapy.

    Published in:
    2022
    By:
    • Juliá‐Palacios, Natalia;
    • Molina‐Anguita, Cristina;
    • Sigatulina Bondarenko, María;
    • Cortès‐Saladelafont, Elisenda;
    • Aparicio, Javier;
    • Cuadras, Daniel;
    • Horvath, Gabriella;
    • Fons, Carmen;
    • Artuch, Rafael;
    • García‐Cazorla, Àngels;
    • Ulate‐Campos, Adriana;
    • Darling, Alejandra;
    • O'Callaghan, Mar;
    • Pías‐Peleteiro, Leticia;
    • Ormazabal, Aida;
    • Mussarra, Clara Oliva;
    • Valera, Carlos;
    • Ramírez‐Camacho, Alia;
    • Juliá-Palacios, Natalia;
    • Molina-Anguita, Cristina
    Publication type:
    journal article

  • The continuously evolving phenotype of succinic semialdehyde dehydrogenase deficiency.

    Published in:
    Journal of Inherited Metabolic Disease, 2024, v. 47, n. 3, p. 447, doi. 10.1002/jimd.12723
    By:
    • Julia‐Palacios, Natalia Alexandra;
    • Kuseyri Hübschmann, Oya;
    • Olivella, Mireia;
    • Pons, Roser;
    • Horvath, Gabriella;
    • Lücke, Thomas;
    • Fung, Cheuk‐Wing;
    • Wong, Suet‐Na;
    • Cortès‐Saladelafont, Elisenda;
    • Rovira‐Remisa, M. Mar;
    • Yıldız, Yılmaz;
    • Mercimek‐Andrews, Saadet;
    • Assmann, Birgit;
    • Stevanović, Galina;
    • Manti, Filippo;
    • Brennenstuhl, Heiko;
    • Jung‐Klawitter, Sabine;
    • Jeltsch, Kathrin;
    • Sivri, H. Serap;
    • Garbade, Sven F.
    Publication type:
    Article

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

    Published in:
    Journal of Inherited Metabolic Disease, 2023, v. 46, n. 2, p. 220, doi. 10.1002/jimd.12572
    By:
    • 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
    Publication type:
    Article

  • Assessment of intellectual impairment, health‐related quality of life, and behavioral phenotype in patients with neurotransmitter related disorders: Data from the iNTD registry.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 6, p. 1489, doi. 10.1002/jimd.12416
    By:
    • Keller, Mareike;
    • Brennenstuhl, Heiko;
    • Kuseyri Hübschmann, Oya;
    • Manti, Filippo;
    • Julia Palacios, Natalia Alexandra;
    • Friedman, Jennifer;
    • Yıldız, Yılmaz;
    • Koht, Jeanette Aimee;
    • Wong, Suet‐Na;
    • Zafeiriou, Dimitrios I.;
    • López‐Laso, Eduardo;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Jeltsch, Kathrin;
    • Serrano‐Lomelin, Jesus;
    • Garbade, Sven F.;
    • Opladen, Thomas;
    • Goez, Helly;
    • Burlina, Alberto;
    • Cortès‐Saladelafont, Elisenda
    Publication type:
    Article

  • Brain MR patterns in inherited disorders of monoamine neurotransmitters: An analysis of 70 patients.

    Published in:
    Journal of Inherited Metabolic Disease, 2021, v. 44, n. 4, p. 1070, doi. 10.1002/jimd.12360
    By:
    • Kuseyri Hübschmann, Oya;
    • Mohr, Alexander;
    • Friedman, Jennifer;
    • Manti, Filippo;
    • Horvath, Gabriella;
    • Cortès‐Saladelafont, Elisenda;
    • Mercimek‐Andrews, Saadet;
    • Yildiz, Yilmaz;
    • Pons, Roser;
    • Kulhánek, Jan;
    • Oppebøen, Mari;
    • Koht, Jeanette Aimee;
    • Podzamczer‐Valls, Inés;
    • Domingo‐Jimenez, Rosario;
    • Ibáñez, Salvador;
    • Alcoverro‐Fortuny, Oscar;
    • Gómez‐Alemany, Teresa;
    • Castro, Pedro;
    • Alfonsi, Chiara;
    • Zafeiriou, Dimitrios I.
    Publication type:
    Article

  • Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
    By:
    • Cortès‐Saladelafont, Elisenda;
    • Lipstein, Noa;
    • García‐Cazorla, Àngels
    Publication type:
    Article

  • Presynaptic disorders: a clinical and pathophysiological approach focused on the synaptic vesicle.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 6, p. 1131, doi. 10.1007/s10545-018-0230-z
    By:
    • Cortès-Saladelafont, Elisenda;
    • Lipstein, Noa;
    • García-Cazorla, Àngels
    Publication type:
    Article

  • Correction to: Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2018, v. 41, n. 4, p. 743, doi. 10.1007/s10545-017-0117-4
    By:
    • Posset, Roland;
    • Garcia-Cazorla, Angeles;
    • Valayannopoulos, Vassili;
    • Leão Teles, Elisa;
    • Dionisi-Vici, Carlo;
    • Brassier, Anaïs;
    • Burlina, Alberto B.;
    • Burgard, Peter;
    • Cortès-Saladelafont, Elisenda;
    • Dobbelaere, Dries;
    • Couce, Maria L.;
    • Sykut-Cegielska, Jolanta;
    • Häberle, Johannes;
    • Lund, Allan M.;
    • Chakrapani, Anupam;
    • Schiff, Manuel;
    • Walter, John H.;
    • Zeman, Jiri;
    • Vara, Roshni;
    • Kölker, Stefan
    Publication type:
    Article

  • Age at disease onset and peak ammonium level rather than interventional variables predict the neurological outcome in urea cycle disorders.

    Published in:
    Journal of Inherited Metabolic Disease, 2016, v. 39, n. 5, p. 661, doi. 10.1007/s10545-016-9938-9
    By:
    • Posset, Roland;
    • Garcia-Cazorla, Angeles;
    • Valayannopoulos, Vassili;
    • Teles, Elisa;
    • Dionisi-Vici, Carlo;
    • Brassier, Anaïs;
    • Burlina, Alberto;
    • Burgard, Peter;
    • Cortès-Saladelafont, Elisenda;
    • Dobbelaere, Dries;
    • Couce, Maria;
    • Sykut-Cegielska, Jolanta;
    • Häberle, Johannes;
    • Lund, Allan;
    • Chakrapani, Anupam;
    • Schiff, Manuel;
    • Walter, John;
    • Zeman, Jiri;
    • Vara, Roshni;
    • Kölker, Stefan
    Publication type:
    Article

  • DNAJC6 Mutations Disrupt Dopamine Homeostasis in Juvenile Parkinsonism-Dystonia.

    Published in:
    2020
    By:
    • 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
    Publication type:
    journal article

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

    Published in:
    Biomedicines, 2021, v. 9, n. 2, p. 148, doi. 10.3390/biomedicines9020148
    By:
    • Castells, Alba-Aina;
    • Balada, Rafel;
    • Tristán-Noguero, Alba;
    • O'Callaghan, Mar;
    • Cortès-Saladelafont, Elisenda;
    • Pascual-Alonso, Ainhoa;
    • Garcia-Cazorla, Àngels;
    • Armstrong, Judith;
    • Alcántara, Soledad;
    • Ekker, Marc
    Publication type:
    Article