부산대학교 도서관

Peters, T.M.A.; Engelke, U.F.; de Boer, S.; Reintjes, J.T.G.; Roullet, J.B.; Broekman, S.; de Vrieze, E.; van WIjk, E.; Wamelink, M.M.C.; Artuch, R.; Barić, I.; Merx, J.; Boltje, T.J.; Martens, J.; Willemsen, M.A.A.P.; Verbeek, M.M.; Wevers, R.A.; Gibson, K.M.; Coene, K.L.M.

Peters, T M A, Engelke, U F H, de Boer, S, Reintjes, J T G, Roullet, J-B, Broekman, S, de Vrieze, E, van Wijk, E, Wamelink, M M C, Artuch, R, Barić, I, Merx, J, Boltje, T J, Martens, J, Willemsen, M A A P, Verbeek, M M, Wevers, R A, Gibson, K M & Coene, K L M 2023, 'Succinic semialdehyde dehydrogenase deficiency in mice and in humans : An untargeted metabolomics perspective', Journal of Inherited Metabolic Disease. https://doi.org/10.1002/jimd.12657
Journal of Inherited Metabolic Disease, 47, 3, pp. 417-430

Juliá-Palacios N; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muñoz-Pujol G; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Bertoli-Avella AM; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Gómez-Chiari M; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Muchart-López J; Department of Diagnostic Imaging, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Paredes-Fuentes AJ; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; O'Callaghan M; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Machado-Casas IS; Neuropediatrics and Neurodevelopment Unit, Hospital Universitario Clínico San Cecilio, 18007 Granada, Spain.; Cristian I; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Morrison J; Division of Genetics, Arnold Palmer Hospital for Children, 32806 Orlando, FL, USA.; Garcia-Cazorla A; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Neurometabolism and Synaptic Metabolism Lab, Department of Neurology and MetabERN, Hospital Sant Joan de Deu, 08950 Barcelona, Spain.; Codina A; Applied Research in Neuromuscular Diseases, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Miryounesi M; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, 1985717413 Tehran, Iran.; Zonic E; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; Medical Genetics and Reporting, CENTOGENE GmbH, 18055 Rostock, Germany.; Cheema H; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Anjum MN; Pediatric Department of Gastroenterology, Children's Hospital of Lahore, 54000 Lahore, Pakistan.; Al-Sannaa N; Johns Hopkins Aramco Health Care, 34465 Dhahran, Saudi Arabia.; Abd Elmaksoud M; Department of Pediatrics, Neurology Unit, Faculty of Medicine, Alexandria University, 21526 Alexandria, Egypt.; Ababneh F; Department of Genetics and Precision Medicine, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, MNGHA, 11481 Riyadh, Saudi Arabia.; King Abdullah International Medical Research Center, King Saud Bin Abdulaziz University for Health Sciences, 11481 Riyadh, Saudi Arabia.; Alijanpour S; Department of Genetics, Faculty of Medicine, Alborz University of Medical Sciences, 3149969415 Karaj, Iran.; Tonekaboni SH; Department of Pediatric Neurology, School of Medicine, Mofid Children's Hospital, Shahid Beheshti University of Medical Sciences, 15468 Tehran, Iran.; Fayazi A; Department of Pediatrics, School of Medicine, Hamadan University of Medical Sciences, 6517838678 Hamadan, Iran.; Urbaniak M; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Barba U; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Hoenicka J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Palau F; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, WC1N 3GB London, United Kingdom.; Ortigoza-Escobar JD; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Ribes A; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Santos-Ocaña C; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Centro Andaluz de Biología del Desarrollo, Universidad Pablo de Olavide, 41013 Sevilla, Spain.; Tyler M; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Gaffney P; Genes and Human Disease Research Program, Oklahoma Medical Research Foundation, Oklahoma City, OK 73104, USA.; Carroll CJ; Cardiovascular and Genomics Research Institute, City St. George's, University of London, London SW17 0RE, United Kingdom.; Tort F; Biochemistry and Molecular Genetics, Division of Inborn Errors of Metabolism-IBC, Hospital Clínic de Barcelona, 08028 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), 08036 Barcelona, Spain.; Wierenga KJ; Department of Pediatrics, Division of Genetics and Metabolism, University of Florida, Gainesville, FL 32610, USA.; Webb BD; Department of Pediatrics, University of Wisconsin School of Medicine and Public Health, Madison, WI 53792, USA.; Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY 10029, USA.; Artuch R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Baide-Mairena H; Department of Pediatric Neurology, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.; Department of Pediatrics, Hospital General Granollers, 08402 Barcelona, Spain.; Urreizti R; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, IRSJD, 08950 Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Peters, T.M.A.; Merx, J.; Kooijman, P.C.; Noga, M.J.; de Boer, S.; van Gemert, L.A.; Salden, G.; Engelke, U.F.H.; Lefeber, D.J.; van Outersterp, R.E.; Berden, W.C.M.; Boltje, T.J.; Artuch, R.; Pías-Peleteiro, L.; García-Cazorla, A.; Baric, I.; Thöny, B.; Oomens, J.; Martens, J.K.; Wevers, R.A.; Verbeek, M.M.; Coene, K.L.M.; Willemsen, M.A.A.P.

J Inherit Metab Dis
JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
Journal of Inherited Metabolic Disease, 46, 1, pp. 66-75

Trifunov S; Paredes-Fuentes AJ; Badosa C; Codina A; Montoya J; Ruiz-Pesini E; Jou C; Garrabou G; Grau-Junyent JM; Yubero D; Montero R; Muchart J; Ortigoza-Escobar JD; O'Callaghan MM; Nascimento A; Català A; Garcia-Cazorla À; Jimenez-Mallebrera C; Artuch R

CLINICAL CHEMISTRY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu

Ochoa Sepúlveda, J.J. ; Serrano Cárdenas, J. ; Sobrido Gómez, M.J. ; Mora, M.D. ; Moreno-Medinilla, E. ; Ramos, J. ; Llorente, M. ; Teva, M.D. ; Castaño-de la Mota, C. ; Martínez-Ruiz, J. ; González Gutierrez-Solana, L. ; Martí, M.J. ; Gómez-Esteban, J.C. ; Hernandez-Vara, J. ; García Cazorla, Á. ; Artuch, R. ; Adarmes, A. ; Mir, P. ; Fernández-Ramos, Joaquín A. ; De la Torre-Aguilar, María José ; Quintáns, Beatriz ; Pérez-Navero, Juan Luis ; Beyer, Katrin ; López-Laso, Eduardo

In Parkinsonism and Related Disorders January 2022 94:67-78

Casas-Alba D.; Oliva C.; Salgado M. D. C.; Codina A.; Agut T.; Garcia-Alix A.; Garcia-Puig M.; Garcia-Cazorla A.; Taglialatela M.; Jou C.; Artuch R.; Fons C.

PEDIATRIC NEUROLOGY
r-I3PT. Repositorio Institucional Producción Científica del Institut d'Investigació i Innovació Parc Taulí
instname
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Tristán-Noguero, A.; Borràs, E.; Molero-Luis, M.; Wassenberg, T.; Peters, T.M.A.; Verbeek, M.M.; Willemsen, M.A.; Opladen, T.; Jeltsch, K.; Pons, R.; Thony, B.; Horvath, G.; Yapici, Z.; Friedman, J.; Hyland, K.; Agosta, G.E.; López-Laso, E.; Artuch, R.; Sabidó, E.; García-Cazorla, À.

MOVEMENT DISORDERS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Movement Disorders, 36, 3, pp. 690-703

Rodriguez-Gonzalez H; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; B2SLab, Institut de Recerca i Innovació en Salut (IRIS), Universitat Politècnica de Catalunya, Barcelona, Spain; Networking Biomedical Research Centre in the subject Area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Arias A; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Poyatos E; Clinical Laboratory, Immunology Division, Hospital Sant Joan de Déu, Barcelona, Spain.; de Los Santos MM; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Minguez B; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Meavilla S; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Garcia-Volpe C; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Loverdos I; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Molera C; Gastroenterology and Nutrition Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Casado M; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Ormazabal A; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Perera-Lluna A; B2SLab, Institut de Recerca i Innovació en Salut (IRIS), Universitat Politècnica de Catalunya, Barcelona, Spain; Networking Biomedical Research Centre in the subject Area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: rafael.artuch@sjd.es.

Publisher: Elsevier Country of Publication: England NLM ID: 8309603 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1532-1983 (Electronic) Linking ISSN: 02615614 NLM ISO Abbreviation: Clin Nutr Subsets: MEDLINE

Marti-Sanchez L.; Baide-Mairena H.; Marce-Grau A.; Pons R.; Skouma A.; Lopez-Laso E.; Sigatullina M.; Rizzo C.; Semeraro M.; Martinelli D.; Carrozzo R.; Dionisi-Vici C.; Gonzalez-Gutierrez-Solana L.; Correa-Vela M.; Ortigoza-Escobar J. D.; Sanchez-Montanez A.; Vazquez E.; Delgado I.; Aguilera-Albesa S.; Yoldi M. E.; Ribes A.; Tort F.; Pollini L.; Galosi S.; Leuzzi V.; Tolve M.; Perez-Gay L.; Aldamiz-Echevarria L.; Del Toro M.; Arranz A.; Roelens F.; Urreizti R.; Artuch R.; Macaya A.; Perez-Duenas B.

JOURNAL OF INHERITED METABOLIC DISEASE
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
instname
Fundació Sant Joan de Déu
r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu

Nou-Fontanet L; Early Onset and Genetic Epilepsy Program, Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Complex Epilepsies Research Group, Institut de Recerca de Sant Joan de Déu, Barcelona, Spain.; Muñoz-Puga N; Clinical Biochemistry Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Madrigal I; Biochemistry and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS (Institut de Investigacions Biomèdiques August Pi I Sunyer), Barcelona, Spain.; Arca G; Neonatology Department, Hospital Clínic of Barcelona, IDIBAPS, Barcelona, Spain.; Alonso-Colmenero I; Complex Epilepsies Research Group, Institut de Recerca de Sant Joan de Déu, Barcelona, Spain.; Neurophysiology Program, Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Artuch R; Clinical Biochemistry Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Fons C; Early Onset and Genetic Epilepsy Program, Pediatric Neurology Department, Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Complex Epilepsies Research Group, Institut de Recerca de Sant Joan de Déu, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 100891853 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1950-6945 (Electronic) Linking ISSN: 12949361 NLM ISO Abbreviation: Epileptic Disord Subsets: MEDLINE

Rodriguez-Gonzalez H; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Ormazabal A; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Casado M; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Arias AY; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Oliva C; Departament de Bioquímica Clinica, Institut de Bioquímica Clínica, Centre de Diagnostic Biomedic, Hospital Clinic, Barcelona, Spain.; Barranco-Altirriba M; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Casadevall R; Dirección de Estrategia Digital y Datos, Hospital Sant Joan de Déu, Barcelona, Spain.; García-Cuyas F; Dirección de Estrategia Digital y Datos, Hospital Sant Joan de Déu, Barcelona, Spain.; Nascimento A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortez C; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Armangué T; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; O'Callaghan MM; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Juliá-Palacios N; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Darling A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Ortigoza-Escobar JD; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Fons C; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; García-Cazorla A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pediatric Neurology Department, Neuromuscular and Applied Research in Neuromuscular Diseases Units, Neurometabolic Unit, Movement Disorders Unit, Synaptic Metabolism Lab, MetabERN, EpiCARE and ERN-RND, Hospital Sant Joan de Déu, Barcelona, Spain.; Perera-Lluna A; B2SLab, Departament d'Enginyeria de Sistemes, Automàtica i Informàtica Industrial, Universitat Politècnica de Catalunya, Barcelona, Spain.; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain.; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 9421549 Publication Model: Print Cited Medium: Internet ISSN: 1530-8561 (Electronic) Linking ISSN: 00099147 NLM ISO Abbreviation: Clin Chem Subsets: MEDLINE

Castilla-Vallmanya, L; Centeno-Pla, M; Franco-Valls, H; Prat-Planas, A; Rojano, E; Seoane, P; Perkins, JR; Garcia-Ranea, JA; Oliva, C; Ormazabal, A; Artuch, R; Rabionet, R; Grinberg, D; Balcells, S; Urreizti, R

EUROPEAN JOURNAL OF HUMAN GENETICS
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu

Maja R. Adel; Ester Antón-Galindo; Edurne Gago-Garcia; Angela Arias-Dimas; Concepció Arenas; Rafael Artuch; Bru Cormand; Noèlia Fernàndez-Castillo

Pharmaceuticals, Vol 17, Iss 2, p 254 (2024)

Mayayo-Vallverdú, Clara; López de Heredia, Miguel; Prat, Esther; González, Laura; Espino Guarch, Mertixell; Vilches, Clara; Muñoz, Lourdes; Asensi, M.A.; Serra, C.; Llebaria, A.; Casado, M.; Artuch, R.; Garrabou, Glòria; Garcia-Roves, Pablo M.; Pallardó, F.V.; Nunes, Virginia; Universitat Autònoma de Barcelona

Mayayo-Vallverdú, Clara; Prat, Esther; Vecino-Pérez, Marta; González, Laura; Gràcia-Garcia, Silvia; San Miguel, Luz; Lopera, Noelia; Arias, Angela; Artuch, R; López de Heredia, Miguel; Torrecilla, Carlos; Rousaud-Barón, Ferran; Angerri, Oriol; Errasti-Murugarren, Ekaitz; Nunes, Virginia; Universitat Autònoma de Barcelona

López López, Daniel; Roldán, Gema; Fernández-Rueda, Jose L.; Bostelmann, Gerrit; Carmona, Rosario; Aquino, Virginia; Pérez-Florido, Javier; Ortuño, Francisco Manuel; Pita, Guillermo; Núñez Torres, Rocío; González-Neira, Anna; Peña-Chilet, María; Dopazo, Joaquín; Alonso, Ángel; Salgado-Garrido, Josefa; Pasalodos-Sanchez, Sara; Ayuso, Carmen; Minguez, Pablo; Avila-Fernandez, Almudena; Corton, Marta; Artuch, R; Borrego, Salud; Antiñolo Gil, Guillermo; Carracedo, Ángel; Amigo, Jorge; Castaño, Luis; Tejada, María-Isabel; Delmiro, Aitor; Espinos, Carmina; Grinberg, Daniel; Guillén-Navarro, Encarnación; Lapunzina, Pablo; López-Escámez, Jose Antonio; Gallego-Martínez, Álvaro; Martí, Ramon A; Rovira-Moreno, Eulalia; Millán, José María; Moreno-Pelayo, Miguel Ángel; Morin, Matías; Moreno Galdó, Antonio; Fernández Cancio, Mónica; Morte, Beatriz; Mulero, Victoriano; García, Diana; Nunes, Virginia; Palau, Francesc; Pérez, Belén; Pérez-Jurado, Luis Alberto; Perona, Rosario; Pujol, Aurora; Ramos, Feliciano; López, Esther; Ribes i Rubió, Antònia; Rosell Andreo, Jordi; Surrallés i Calonge, Jordi; CSVS Crowdsourcing Group

Rodriguez-Gonzalez H; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; B2SLab, Institut de Recerca i Innovació en Salut (IRIS), Universitat Politècnica de Catalunya, Barcelona, Spain; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain.; Nou-Fontanet L; Pediatric Neurology Department, European Reference Network for rare and complex epilepsies (EpiCARE) coordinating center, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Ormazabal A; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Casado M; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Arias Á; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Pias-Peleteiro L; Pediatric Neurology Department, European Reference Network for rare and complex epilepsies (EpiCARE) coordinating center, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Gutierrez A; Pediatric Neurology Department, European Reference Network for rare and complex epilepsies (EpiCARE) coordinating center, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Perera-Lluna A; B2SLab, Institut de Recerca i Innovació en Salut (IRIS), Universitat Politècnica de Catalunya, Barcelona, Spain; Networking Biomedical Research Centre in the subject area of Bioengineering, Biomaterials and Nanomedicine (CIBER-BBN), Madrid, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Garcia-Cazorla A; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain; Pediatric Neurology Department, European Reference Network for rare and complex epilepsies (EpiCARE) coordinating center, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Fons C; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain; Pediatric Neurology Department, European Reference Network for rare and complex epilepsies (EpiCARE) coordinating center, Hospital Sant Joan de Déu, Universitat de Barcelona, Barcelona, Spain.; Artuch R; Clinical Biochemistry Department, Hospital Sant Joan de Déu, Barcelona, Spain; Institut de Recerca Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain; Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain. Electronic address: rafael.artuch@sjd.es.

Publisher: Academic Press Country of Publication: United States NLM ID: 9500169 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1095-953X (Electronic) Linking ISSN: 09699961 NLM ISO Abbreviation: Neurobiol Dis Subsets: MEDLINE

Morales-Romero, B.; Muñoz-Pujol, G.; Artuch, R.; García-Cazorla, A.; O'Callaghan, M.; Sykut-Cegielska, J.; Campistol, J.; Moreno-Lozano, P.J.; Oud, M.M.; Wevers, R.A.; Lefeber, D.J.; Esteve-Codina, A.; Yepez, V.A.; Gagneur, J.; Wortmann, S.B.; Prokisch, H.; Ribes, A.; García-Villoria, J.; Tort, F.

Articles publicats en revistes (IDIBAPS: Institut d'investigacions Biomèdiques August Pi i Sunyer)
Dipòsit Digital de la UB
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Molecular Genetics and Metabolism, 142, 3, pp. 108511
Mol. Genet. Metab. 142:108511 (2024)

Mayayo-Vallverdú C; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Gaitán-Peñas H; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Armand-Ugon M; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Muhaisen A; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Prat E; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Castellanos A; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Elorza-Vidal X; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; de Heredia ML; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Alonso-Gardón M; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Pérez-Rius C; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Vecino-Pérez M; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Mallen A; Department of Nephrology, Hospital Universitart Bellvitge and Institut d'Investigació Biomèdica de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Spain.; Errasti-Murugarren E; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Hueso M; Department of Nephrology, Hospital Universitart Bellvitge and Institut d'Investigació Biomèdica de Bellvitge-IDIBELL, L'Hospitalet de Llobregat, Spain.; Artuch R; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Nunes V; Genes, Disease and Therapy Program, Molecular Genetics Laboratory-IDIBELL, Genetics Section, Department of Physiological Sciences, Faculty of Medicine and Health Sciences, University of Barcelona, Barcelona, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Estévez R; Physiology Unit, Department of Physiological Sciences, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, L'Hospitalet de Llobregat, Spain.; Genes, Disease and Therapy Program, Physiology and pathology of the functional relationship between glia and neurons-IDIBELL, L'Hospitalet de Llobregat, Spain.; Centro de Investigación en red de enfermedades raras (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.

Publisher: Cambridge Univ. Press Country of Publication: England NLM ID: 0266262 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-7793 (Electronic) Linking ISSN: 00223751 NLM ISO Abbreviation: J Physiol Subsets: MEDLINE

Casas-Alba D; Valero A; Muchart J; Armangue T; Jordan I; Cabrerizo M; Molero M; Artuch R; Fortuny C; Muñoz-Almagro C; Launes C

PEDIATRIC NEUROLOGY
r-FSJD. Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
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r-FSJD: Repositorio Institucional de Producción Científica de la Fundació Sant Joan de Déu
Fundació Sant Joan de Déu