부산대학교 도서관

Santos-Gómez A; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.; Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, Barcelona, Spain.; Rejano-Bosch A; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.; Marí-Vico R; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, Barcelona, Spain.; Miguez-Cabello F; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.; Masana M; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.; Centro de Investigación Biomédica en Red Sobre Enfermedades Neurodegenerativas (CIBERNED), Madrid, Spain.; Soto D; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.; Olivella M; Bioinformatics and Medical Statistics Group, University of Vic-Central University of Catalonia, Vic, Spain.; Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, Vic, Spain.; García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, Barcelona, Spain.; Altafaj X; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, Barcelona, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Juliá-Palacios N; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Olivella M; Bioinformatics and Bioimaging Group. Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Institute for Research and Innovation in Life and Health Sciences (IRIS-CC), University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Sigatullina Bondarenko M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Muñoz-Cabello B; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Alonso-Luengo O; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Soto-Insuga V; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; García-Navas D; Department of Pediatric Neurology, Complejo Hospitalario Universitario de Cáceres, 10003 Cáceres, Spain.; Cuesta-Herraiz L; Department of Paediatrics Neurology, Hospital de Manises, 46940 Valencia, Spain.; Andreo-Lillo P; Neuropediatric Unit, Pediatric Department, University Hospital of Sant Joan d'Alacant, 03550 Sant Joan d'Alacant, Spain.; Aguilera-Albesa S; Paediatric Neurology Unit, Department of Pediatrics, Hospital Universitario de Navarra, 31008, Pamplona, Spain.; Hedrera-Fernández A; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; González Alguacil E; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; Sánchez-Carpintero R; Pediatric Neurology Unit, Clínica Universidad de Navarra, 31080, Pamplona, Spain.; Martín Del Valle F; Department of Pediatrics, Hospital Universitario Severo Ochoa, 28911 Leganés, Madrid, Spain.; Jiménez González E; Department of Pediatrics, Hospital Rey Juan Carlos, 28933 Móstoles, Madrid, Spain.; Cean Cabrera L; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Medina-Rivera I; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Perez-Ordoñez M; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Colomé R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Lopez L; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Engracia Cazorla M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Fornaguera M; Department of Rehabilitation, Institut de Recerca Sant Joan de Déu, 08950 Barcelona, Spain.; Ormazabal A; Department of Clinical Biochemistry, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; European Reference Network for Hereditary Metabolic Diseases (MetabERN), Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III, Madrid 28029, Spain.; Alonso-Colmenero I; Pediatric Neurology Department, Hospital Sant Joan de Déu, Full Member of ERN EpiCare, Barcelona University, 08950 Barcelona, Spain.; Illescas KS; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Balsells-Mejía S; Department of Research Promotion and Management. Statistical Support, Hospital Sant Joan de Déu (HSJD), 08950 Barcelona, Spain.; Mari-Vico R; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Duffo Viñas M; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Child and Adolescent Mental Health Area, Psychiatry and Psychology, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Cappuccio G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Telethon Institute of Genetics and Medicine, Department of Pediatrics, Pozzuoli, 80131 Naples, Italy.; Terrone G; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Romano R; Department of Translational Medical Sciences, Università degli Studi di Napoli 'Federico II', 80125 Naples, Italy.; Manti F; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy.; Mastrangelo M; Department of Women and Child Health and Uroginecological Sciences, Sapienza University of Rome, 00185 Rome, Italy.; Child Neurology and Psychiatry Unit, Department of Neuroscience/Mental Health, Azienda Ospedaliero-Universitaria Policlinico Umberto I, 00161 Rome, Italy.; Alfonsi C; Department of Human Neuroscience, University of Rome La Sapienza, 00185 Roma, Lazio, Italy.; de Siqueira Barros B; Núcleo de Estudos da Saúde do Adolescente, Programa de Pós-Graduação em Ciências Médicas, Universidade do Estado do Rio de Janeiro, Faculdade de Ciência Médicas, 56066 Rio de Janeiro, RJ, Brazil.; Nizon M; Service de Génétique Médicale, CHU Nantes, 44093 Nantes, France.; Gjerulfsen CE; Department of Epilepsy Genetics and Personalized Treatment, The Danish Epilepsy Center, 4293 Dianalund, Denmark.; Muro VL; Pediatric Neurology Unit, Hospital Britanico Buenos Aires, C1280AEB Buenos Aires, Argentina.; Karall D; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Zeiner F; Clinic for Paediatrics, Division of Inherited Metabolic Disorders, Medical University of Innsbruck, 6020 Innsbruck, Austria.; Masnada S; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Peterlongo I; Department of Child Neurology, V. Buzzi Children's Hospital, 20125 Milan, Italy.; Oyarzábal A; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.; Santos-Gómez A; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Altafaj X; Department of Biomedicine, School of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; García-Cazorla Á; Neurometabolic Unit and Synaptic Metabolism Lab, Department of Neurology, Hospital Sant Joan de Déu-IRSJD, CIBERER and MetabERN, 08950 Barcelona, Spain.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid ; Alghamdi, Malak Ali ; Anikster, Yair ; Bao, Xinhua ; Bashiri, Fahad A. ; Zeev, Bruria Ben ; Bisello, Giovanni ; Ceylan, Ahmet Cevdet ; Chien, Yin-Hsiu ; Choy, Yew Sing ; Elsea, Sarah H. ; Flint, Lisa ; García-Cazorla, Àngels ; Gijavanekar, Charul ; Gümüş, Emel Yılmaz ; Hamad, Muddathir H. ; Hişmi, Burcu ; Honzik, Tomas ; Hübschmann, Oya Kuseyri ; Hwu, Wuh-Liang ; Ibáñez-Micó, Salvador ; Jeltsch, Kathrin ; Juliá-Palacios, Natalia ; Kasapkara, Çiğdem Seher ; Kurian, Manju A. ; Kusmierska, Katarzyna ; Liu, Ning ; Ngu, Lock Hock ; Odom, John D. ; Ong, Winnie Peitee ; Opladen, Thomas ; Oppeboen, Mari ; Pearl, Phillip L. ; Pérez, Belén ; Pons, Roser ; Rygiel, Agnieszka Magdalena ; Shien, Tan Ee ; Spaull, Robert ; Sykut-Cegielska, Jolanta ; Tabarki, Brahim ; Tangeraas, Trine ; Thöny, Beat ; Wassenberg, Tessa ; Wen, Yongxin ; Yakob, Yusnita ; Yin, Jasmine Goh Chew ; Zeman, Jiri ; Blau, Nenad

In Molecular Genetics and Metabolism July 2023 139(3)

Tokatly Latzer, Itay ; Bertoldi, Mariarita ; Blau, Nenad ; DiBacco, Melissa L. ; Elsea, Sarah H. ; García-Cazorla, Àngels ; Gibson, K. Michael ; Gropman, Andrea L. ; Hanson, Ellen ; Hoffman, Carolyn ; Jeltsch, Kathrin ; Juliá-Palacios, Natalia ; Knerr, Ina ; Lee, Henry H.C. ; Malaspina, Patrizia ; McConnell, Alice ; Opladen, Thomas ; Oppebøen, Mari ; Rotenberg, Alexander ; Walterfang, Mark ; Wang-Tso, Lee ; Wevers, Ron A. ; Roullet, Jean-Baptiste ; Pearl, Phillip L.

In Molecular Genetics and Metabolism May 2024 142(1)

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

Alcantud, Alberto; Aguilera-Albesa, Sergio; Alvarez Demanuel, Diana; Alvarez Molinero, Mireia; Aquino Fariña, Lourdes; Arrabal, Luisa; Arriola-Pereda, Gema; Aznar-Laín, Gemma; Benavides-Medina, Maite; Bermejo, Teresa; Blanco-Lago, Raquel; Caballero, Eva; Calvo, Rocío; Camacho Salas, Ana; Conejo-Moreno, David; Delgadillo-Chilavert, Verónica; Elosegi-Castellanos, Amagoia; Esteban Canto, Vanesa; Fernández-Ramos, Joaquín; Garcia-Puig, Montserrat; García-Ribes, Ainhoa; Gómez-Martín, Hilario; Gonzalez-Barrios, Desire; González-Gutiérrez-Solana, Luis; Jimena-Garcia, Sara; Jiménez-Legido, María; Juliá-Palacios, Natalia; López-Laso, Eduardo; Martí-Carrera, Itxaso; Martínez González, Marta; Martín-Viota, Lucía; Mattozi, Simone; Maqueda-Castellote, Elena; Mendibe, Maria D M; Mora-Ramírez, Maria D; Muñoz-Cabello, Beatriz; Navarro-Morón, Juan; Nunes-Cabrera, Tania; Orellana, Gabriela; Pujol-Soler, Berta; Querol, Luis; Ramírez, Alfredo; Rodriguez-Lucenilla, Maria I; Ruiz, Cesar; Soto-Insuga, Víctor; Toledo Bravo de Laguna, Laura; Turon-Viñas, Eulàlia; Vázquez-López, Maria; Villar-Vera, Cristina; Armangue, Thaís ; Olivé-Cirera, Gemma ; Martínez-Hernandez, Eugenia ; Sepulveda, Maria ; Ruiz-Garcia, Raquel ; Muñoz-Batista, Marta ; Ariño, Helena ; González-Álvarez, Veronica ; Felipe-Rucián, Ana ; Jesús Martínez-González, Maria ; Cantarín-Extremera, Veronica ; Concepción Miranda-Herrero, Maria ; Monge-Galindo, Lorena ; Tomás-Vila, Miguel ; Miravet, Elena ; Málaga, Ignacio ; Arrambide, Georgina ; Auger, Cristina ; Tintoré, Mar ; Montalban, Xavier ; Vanderver, Adeline ; Graus, Francesc ; Saiz, Albert ; Dalmau, Josep

In The Lancet Neurology March 2020 19(3):234-246

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

Puyana Rodríguez JM; Pediatric Neurology Department, Hospital Materno Infantil of Badajoz, University Hospital Complex Badajoz, Badajoz, Spain. Electronic address: rayuela.jm@gmail.com.; Mata NV; Pediatric Neurology Department, Hospital Materno Infantil of Badajoz, University Hospital Complex Badajoz, Badajoz, Spain.; Juliá Palacios N; Neurometabolic Unit, Neurology Department, Hospital Sant Joan de Déu, Esplugues de Llobregat, Barcelona, Spain.; Real Terrón R; Pediatric Neurology Department, Hospital Materno Infantil of Badajoz, University Hospital Complex Badajoz, Badajoz, Spain.; Sardina González MD; Pediatric Neurology Department, Hospital Materno Infantil of Badajoz, University Hospital Complex Badajoz, Badajoz, Spain.; Cáceres Marzal C; Pediatric Neurology Department, Hospital Materno Infantil of Badajoz, University Hospital Complex Badajoz, Badajoz, Spain.

Publisher: Elsevier Science Publishing Country of Publication: United States NLM ID: 8508183 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-5150 (Electronic) Linking ISSN: 08878994 NLM ISO Abbreviation: Pediatr Neurol Subsets: MEDLINE

Ana Santos-Gómez; Federico Miguez-Cabello; Adrián García-Recio; Sílvia Locubiche-Serra; Roberto García-Díaz; Víctor Soto-Insuga; Rosa Guerrero-López; Natalia Juliá-Palacios; Francisco Ciruela; Àngels García-Cazorla; David Soto; Mireia Olivella; Xavier Altafaj

Digital.CSIC. Repositorio Institucional del CSIC
instname
HUMAN MOLECULAR GENETICS
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
Human Molecular Genetics
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)
Digital.CSIC: Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)

Àngels García-Cazorla; Edgard Verdura; Natalia Juliá-Palacios; Eric N. Anderson; Leire Goicoechea; Laura Planas-Serra; Enkhtuul Tsogtbaatar; Nikita R. Dsouza; Agatha Schlüter; Roser Urreizti; Jessica M. Tarnowski; Ralitza H. Gavrilova; Alfonso Oyarzábal; Inés Medina; Aida Ormazábal; Jordi Muchart; Juan Manuel Carretero; Cristina Jou; Mireia del Toro; Andrés Nascimento; Abraham J. Paredes; Delia Yubero; Roser Colomé; Montserrat Ruiz; Agustí Rodríguez-Palmero; Stéphane Fourcade; Benjamin Cogné; Thomas Besnard; Marie Vincent; Stéphane Bézieau; Clifford D. Folmes; Michael T. Zimmermann; Eric W. Klee; Udai Bhan Pandey; Rafael Artuch; Margot A. Cousin; Aurora Pujol

Acta Neuropathol
ACTA NEUROPATHOLOGICA
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
Dipòsit Digital de la UB
Universidad de Barcelona
Articles publicats en revistes (Genètica, Microbiologia i Estadística)
instname
Acta Neuropathologica
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
Institut de Recerca Germans Trias i Pujol (IGTP)

Mazia, Claudio Gabriel ; Wilken, Miguel ; Barroso, Fabio ; Saba, Juliet ; Rugiero, Marcelo ; Bettini, Mariela ; Chaves, Marcelo ; Vidal, Gonzalo ; Garcia, Alejandra Dalila ; De Bleecker, Jan ; Van den Abeele, Guy ; de Koning, Kathy ; De Mey, Katrien ; Mercelis, Rudy ; Mahieu, Délphine ; Wagemaekers, Linda ; Van Damme, Philip ; Depreitere, Annelies ; Schotte, Caroline ; Smetcoren, Charlotte ; Stevens, Olivier ; Van Daele, Sien ; Vandenbussche, Nicolas ; Vanhee, Annelies ; Verjans, Sarah ; Vynckier, Jan ; D'Hondt, Ann ; Tilkin, Petra ; Alves de Siqueira Carvalho, Alzira ; Dias Brockhausen, Igor ; Feder, David ; Ambrosio, Daniel ; César, Pamela ; Melo, Ana Paula ; Martins Ribeiro, Renata ; Rocha, Rosana ; Bezerra Rosa, Bruno ; Veiga, Thabata ; da Silva, Luiz Augusto ; Santos Engel, Murilo ; Gonçalves Geraldo, Jordana ; Ananias Morita, Maria da Penha ; Nogueira Coelho, Erica ; Paiva, Gabriel ; Pozo, Marina ; Prando, Natalia ; Martineli Torres, Debora Dada ; Butinhao, Cristiani Fernanda ; Duran, Gustavo ; Gomes da Silva, Tamires Cristina ; Otavio Maia Gonçalves, Luiz ; Pazetto, Lucas Eduardo ; Fialho, Tomás Augusto Suriane ; Renata Cubas Volpe, Luciana ; Souza Duca, Luciana ; Souza Bulle Oliveira, Acary ; Amaral Andrade, Ana Carolina ; Annes, Marcelo ; Duarte Silva, Liene ; Cavalcante Lino, Valeria ; Pinto, Wladimir ; Assis, Natália ; Carrara, Fernanda ; Miranda, Carolina ; Souza, Iandra ; Fernandes, Patricia ; Siddiqi, Zaeem ; Phan, Cecile ; Narayan, Jeffrey ; Blackmore, Derrick ; Mallon, Ashley ; Roderus, Rikki ; Watt, Elizabeth ; Junkerova, Jana ; Kurkova, Barbora ; Reguliova, Katarina ; Zapletalova, Olga ; Pitha, Jiri ; Novakova, Iveta ; Tyblova, Michaela ; Jurajdova, Ivana ; Wolfova, Marcela ; Andersen, Henning ; Harbo, Thomas ; Vinge, Lotte ; Krogh, Susanne ; Mogensen, Anita ; Vissing, John ; Højgaard, Joan ; Witting, Nanna ; Mette Ostergaard Autzen, Anne ; Pedersen, Jane ; Eralinna, Juha-Pekka ; Laaksonen, Mikko ; Oksaranta, Olli ; Harrison, Tuula ; Eriksson, Jaana ; Rozsa, Csilla ; Horvath, Melinda ; Lovas, Gabor ; Matolcsi, Judit ; Szabo, Gyorgyi ; Jakab, Gedeonne ; Szabadosne, Brigitta ; Antonini, Giovanni ; Di Pasquale, Antonella ; Garibaldi, Matteo ; Morino, Stefania ; Troili, Fernanda ; Fionda, Laura ; Filla, Allessandro ; Costabile, Teresa ; Marano, Enrico ; Saccà, Francesco ; Fasanaro, Angiola ; Marsili, Angela ; Puorro, Giorgia ; Mantegazza, Renato ; Antozzi, Carlo ; Bonanno, Silvia ; Camera, Giorgia ; Locatelli, Alberta ; Maggi, Lorenzo ; Pasanisi, Maria ; Campanella, Angela ; Evoli, Amelia ; Alboini, Paolo Emilio ; D'Amato, Valentina ; Iorio, Raffaele ; Kanai, Tetsuya ; Kawaguchi, Naoki ; Mori, Masahiro ; Kaneko, Yoko ; Kanzaki, Akiko ; Kobayashi, Eri ; Masaki, Katsuhisa ; Matsuse, Dai ; Matsushita, Takuya ; Uehara, Taira ; Shimpo, Misa ; Jingu, Maki ; Kikutake, Keiko ; Nakamura, Yumiko ; Sano, Yoshiko ; Nagane, Yuriko ; Kamegamori, Ikuko ; Tsuda, Tomoko ; Fujii, Yuko ; Futono, Kazumi ; Ozawa, Yukiko ; Mizugami, Aya ; Saito, Yuka ; Morikawa, Miyuki ; Samukawa, Makoto ; Kamakura, Sachiko ; Miyawaki, Eriko ; Mitazaki, Teiichiro ; Motomura, Masakatsu ; Mukaino, Akihiro ; Yoshimura, Shunsuke ; Asada, Shizuka ; Yoshida, Seiko ; Amamoto, Shoko ; Kobashikawa, Tomomi ; Koga, Megumi ; Maeda, Yasuko ; Takada, Kazumi ; Takada, Mihoko ; Tsurumaru, Masako ; Yamashita, Yumi ; Akiyama, Tetsuya ; Narikawa, Koichi ; Tano, Ohito ; Tsukita, Kenichi ; Kurihara, Rikako ; Meguro, Fumie ; Fukuda, Yusuke ; Sato, Miwako ; Funaka, Soichiro ; Kawamura, Tomohiro ; Makamori, Masayuki ; Takahashi, Masanori ; Taichi, Namie ; Hasuike, Tomoya ; Higuchi, Eriko ; Kobayashi, Hisako ; Osakada, Kaori ; Tsuda, Emiko ; Shimohama, Shun ; Hayashi, Takashi ; Hisahara, Shin ; Kawamata, Jun ; Murahara, Takashi ; Saitoh, Masaki ; Suzuki, Shuichiro ; Yamamoto, Daisuke ; Ishiyama, Yoko ; Ishiyama, Naoko ; Noshiro, Mayuko ; Takeyama, Rumi ; Uwasa, Kaori ; Yasuda, Ikuko ; van der Kooi, Anneke ; de Visser, Marianne ; Gibson, Tamar ; Casasnovas, Carlos ; Alberti Aguilo, Maria Antonia ; Homedes-Pedret, Christian ; Julia Palacios, Natalia ; Diez Porras, Laura ; Velez Santamaria, Valentina ; Lazaro, Ana ; Diez Tejedor, Exuperio ; Gomez Salcedo, Pilar ; Fernandez-Fournier, Mireya ; Lopez Ruiz, Pedro ; Rodriguez de Rivera, Francisco Javier ; Sastre, Maria ; Gamez, Josep ; Sune, Pilar ; Salvado, Maria ; Gili, Gisela ; Mazuela, Gonzalo ; Illa, Isabel ; Cortes Vicente, Elena ; Diaz-Manera, Jordi ; Querol Gutierrez, Luis Antonio ; Rojas Garcia, Ricardo ; Vidal, Nuria ; Arribas-Ibar, Elisabet ; Piehl, Fredrik ; Hietala, Albert ; Bjarbo, Lena ; Sengun, Ihsan ; Meherremova, Arzu ; Ozcelik, Pinar ; Balkan, Bengu ; Tuga, Celal ; Ugur, Muzeyyen ; Erdem-Ozdamar, Sevim ; Bekircan-Kurt, Can Ebru ; Acar, Nazire Pinar ; Yilmaz, Ezgi ; Caliskan, Yagmur ; Orsel, Gulsah ; Efendi, Husnu ; Aydinlik, Seda ; Cavus, Hakan ; Kutlu, Ayse ; Becerikli, Gulsah ; Semiz, Cansu ; Tun, Ozlem ; Terzi, Murat ; Dogan, Baki ; Onar, Musa Kazim ; Sen, Sedat ; Kirbas Cavdar, Tugce ; Veske, Adife ; Norwood, Fiona ; Dimitriou, Aikaterini ; Gollogly, Jakit ; Mahdi-Rogers, Mohamed ; Seddigh, Arshira ; Sokratous, Giannis ; Maier, Gal ; Sohail, Faisal ; Jacob, Saiju ; Sadalage, Girija ; Torane, Pravin ; Brown, Claire ; Shah, Amna ; Sathasivam, Sivakumar ; Arndt, Heike ; Davies, Debbie ; Watling, Dave ; Amato, Anthony ; Cochrane, Thomas ; Salajegheh, Mohammed ; Roe, Kristen ; Amato, Katherine ; Toska, Shirli ; Wolfe, Gil ; Silvestri, Nicholas ; Patrick, Kara ; Zakalik, Karen ; Katz, Jonathan ; Miller, Robert ; Engel, Marguerite ; Forshew, Dallas ; Bravver, Elena ; Brooks, Benjamin ; Plevka, Sarah ; Burdette, Maryanne ; Cunningham, Scott ; Sanjak, Mohammad ; Kramer, Megan ; Nemeth, Joanne ; Schommer, Clara ; Tierney, Scott ; Juel, Vern ; Guptill, Jeffrey ; Hobson-Webb, Lisa ; Massey, Janice ; Beck, Kate ; Carnes, Donna ; Loor, John ; Anderson, Amanda ; Pascuzzi, Robert ; Bodkin, Cynthia ; Kincaid, John ; Snook, Riley ; Guingrich, Sandra ; Micheels, Angela ; Chaudhry, Vinay ; Corse, Andrea ; Mosmiller, Betsy ; Kelley, Andrea ; Ho, Doreen ; Srinivasan, Jayashri ; Vytopil, Michal ; Jara, Jordan ; Ventura, Nicholas ; Scala, Stephanie ; Carter, Cynthia ; Donahue, Craig ; Herbert, Carol ; Weiner, Elaine ; Alam, Sharmeen ; McKinnon, Jonathan ; Haar, Laura ; McKinnon, Naya ; Alcon, Karan ; McKenna, Kaitlyn ; Sattar, Nadia ; Daniels, Kevin ; Jeffery, Dennis ; Freimer, Miriam ; Hoyle, Joseph Chad ; Kissel, John ; Agriesti, Julie ; Chelnick, Sharon ; Mezache, Louisa ; Pineda, Colleen ; Muharrem, Filiz ; Karam, Chafic ; Khoury, Julie ; Marburger, Tessa ; Kaur, Harpreet ; Dimitrova, Diana ; Gilchrist, James ; Agrawal, Brajesh ; Elsayed, Mona ; Kohlrus, Stephanie ; Andoin, Angela ; Darnell, Taylor ; Golden, Laura ; Lokaitis, Barbara ; Seelback, Jenna ; Muppidi, Srikanth ; Goyal, Neelam ; Sakamuri, Sarada ; So, Yuen T. ; Paulose, Shirley ; Pol, Sabrina ; Welsh, Lesly ; Bhavaraju-Sanka, Ratna ; Tobon Gonzales, Alejandro ; Dishman, Lorraine ; Jones, Floyd ; Gonzalez, Anna ; Padilla, Patricia ; Saklad, Amy ; Silva, Marcela ; Kazamel, Mohamed ; Alsharabati, Mohammad ; Lu, Liang ; Nozaki, Kenkichi ; Mumfrey-Thomas, Sandi ; Woodall, Amy ; Mozaffar, Tahseen ; Cash, Tiyonnoh ; Goyal, Namita ; Roy, Gulmohor ; Mathew, Veena ; Maqsood, Fatima ; Minton, Brian ; Jones, H. James ; Rosenfeld, Jeffrey ; Garcia, Rebekah ; Echevarria, Laura ; Garcia, Sonia ; Pulley, Michael ; Aranke, Shachie ; Berger, Alan Ross ; Shah, Jaimin ; Shabbir, Yasmeen ; Smith, Lisa ; Varghese, Mary ; Gutmann, Laurie ; Gutmann, Ludwig ; Jerath, Nivedita ; Nance, Christopher ; Swenson, Andrea ; Olalde, Heena ; Kressin, Nicole ; Sieren, Jeri ; Barohn, Richard ; Dimachkie, Mazen ; Glenn, Melanie ; McVey, April ; Pasnoor, Mamatha ; Statland, Jeffery ; Wang, Yunxia ; Liu, Tina ; Emmons, Kelley ; Jenci, Nicole ; Locheke, Jerry ; Fondaw, Alex ; Johns, Kathryn ; Rico, Gabrielle ; Walsh, Maureen ; Herbelin, Laura ; Hafer-Macko, Charlene ; Kwan, Justin ; Zilliox, Lindsay ; Callison, Karen ; Young, Valerie ; DiSanzo, Beth ; Naunton, Kerry ; Benatar, Michael ; Bilsker, Martin ; Sharma, Khema ; Cooley, Anne ; Reyes, Eliana ; Michon, Sara-Claude ; Sheldon, Danielle ; Steele, Julie ; Howard Jr, James ; Chopra, Manisha ; Traub, Rebecca ; Vu, Tuan ; Katzin, Lara ; McClain, Terry ; Harvey, Brittany ; Hart, Adam ; Huynh, Kristin ; Beydoun, Said ; Chilingaryan, Amaiak ; Doan, Victor ; Droker, Brian ; Gong, Hui ; Karimi, Sanaz ; Lin, Frank ; Pokala, Krishna ; Shah, Akshay ; Tran, Anh ; Akhter, Salma ; Malekniazi, Ali ; Tandan, Rup ; Hehir, Michael ; Waheed, Waqar ; Lucy, Shannon ; Weiss, Michael ; Distad, Jane ; Strom, Susan ; Downing, Sharon ; Kim, Bryan ; Nowak, Richard ; Dicapua, Daniel ; Keung, Benison ; Kumar, Aditya ; Patwa, Huned ; Robeson, Kimberly ; Yang, Irene ; Nye, Joan ; Vu, Hong ; Murai, Hiroyuki ; Uzawa, Akiyuki ; Suzuki, Yasushi ; Imai, Tomihiro ; Shiraishi, Hirokazu ; Suzuki, Hidekazu ; Okumura, Meinoshin ; O’Brien, Fanny ; Wang, Jing-Jing ; Fujita, Kenji P. ; Utsugisawa, Kimiaki

In Journal of the Neurological Sciences 15 December 2019 407

Deudero A; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Lasheras E; Transition Area, Quality Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Ventura R; Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Montserrat-Carbonell C; Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Milisenda JC; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Juliá-Palacios N; Transition Area, Quality Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de Déu and MetabERN, 08950 Barcelona, Spain.; Matas A; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Forga-Visa MT; Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; López-Galera RM; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain.; García-Villoria J; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain.; Placeres M; Pharmacy Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Pané A; Endocrinology Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Garrabou G; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Ribes A; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Division of Inborn Errors of Metabolism-IBC, Biochemical and Molecular Genetics Department, Hospital Clinic of Barcelona, IDIBAPS, 08036 Barcelona, Spain.; Cardellach F; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Moreno-Lozano PJ; Inherited Metabolic Diseases and Muscular Disorders' Research Laboratory, Centre de Recerca Biomèdica CELLEX, Institut d'Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS), Faculty of Medicine and Health Sciences, University of Barcelona, 08036 Barcelona, Spain.; Internal Medicine Department, Hospital Clinic of Barcelona, 08036 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Garcia-Cazorla À; Transition Area, Quality Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de Déu and MetabERN, 08950 Barcelona, Spain.; Campistol J; Transition Area, Quality Department, Hospital Sant Joan de Déu, 08950 Barcelona, Spain.; Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Instituto de Salud Carlos III (ISCIII), 28029 Madrid, Spain.; Metabolic Diseases Unit, Department of Neurology, Hospital Sant Joan de Déu and MetabERN, 08950 Barcelona, Spain.; Iem-Sjd-Hcb Consortia

Publisher: MDPI AG Country of Publication: Switzerland NLM ID: 101606588 Publication Model: Electronic Cited Medium: Print ISSN: 2077-0383 (Print) Linking ISSN: 20770383 NLM ISO Abbreviation: J Clin Med Subsets: PubMed not MEDLINE

Costa I Colomer J; Sant Joan de Déu Hospital, Pg. De Sant Joan de Déu, 2, Espluges de Lorbregat, 08950, Barcelona, Spain.; Garcia-Moyano M; de Cruces University Hospital, Cruces Plaza, 12, Barakaldo, Bizkaia, 48903, Spain.; Maiz L; Pneumology Service, Ramón y Cajal Hospital, Alcalá de Henares University, M-607, Km. 9, 100, Fuencarral-El Pardo, 28034, Madrid, Spain.; Perez-Tarazona S; La Fe, University Hospital, Avinguda de Fernando Abril Martorell, 106, Quatre Carreres, 46026, Valencia, Spain.; Ruiz de Valbuena M; Paediatric Pulmonology Department, La Paz University Hospital, P.° de la Castellana, 261, Fuencarral-El Pardo, 28046, Madrid, Spain.; Ceberio L; de Cruces University Hospital, Cruces Plaza, 12, Barakaldo, Bizkaia, 48903, Spain.; Correcher P; La Fe, University Hospital, Avinguda de Fernando Abril Martorell, 106, Quatre Carreres, 46026, Valencia, Spain.; Juliá-Palacios N; Sant Joan de Déu Hospital, Pg. De Sant Joan de Déu, 2, Espluges de Lorbregat, 08950, Barcelona, Spain.; Morales M; 12 de Octubre, University Hospital, Av. de Córdoba, s/n, Usera, 28041, Madrid, Spain.; Pérez-Yagüe G; Complejo Asistencial de Segovia, C/ de Luis Erik Clavería, s/n, 40002, Segovia, Spain.; Villarrubia J; Pneumology Service, Ramón y Cajal Hospital, Alcalá de Henares University, M-607, Km. 9, 100, Fuencarral-El Pardo, 28034, Madrid, Spain.; Pérez-Rojo R; 12 de Octubre, University Hospital, Av. de Córdoba, s/n, Usera, 28041, Madrid, Spain.

Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101604463 Publication Model: eCollection Cited Medium: Print ISSN: 2213-0071 (Print) Linking ISSN: 22130071 NLM ISO Abbreviation: Respir Med Case Rep Subsets: PubMed not MEDLINE

Santos-Gómez A; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Miguez-Cabello F; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Juliá-Palacios N; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, 08950 Barcelona, Spain.; García-Navas D; Department of Pediatric Neurology, Hospital Universitario San Pedro de Alcántara, 10001 Cáceres, Spain.; Soto-Insuga V; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; García-Peñas JJ; Neurology Service, Hospital Niño Jesús, 28009 Madrid, Spain.; Fuentes P; Neuropediatrics Unit, Hospital Clínico Santiago de Compostela, 15706 Santiago de Compostela, Spain.; Ibáñez-Micó S; Pediatric Neurology Unit, Arrixaca Universitary Hospital, 30120 Murcia, Spain.; Cuesta L; Department of Paediatrics Neurology, Hospital de Manises, 46940 Valencia, Spain.; Cancho R; Pediatric Neurology, Department of Pediatrics, Hospital Universitario Río Hortega, 47012 Valladolid, Spain.; Andreo-Lillo P; Neuropediatric Unit, Pediatric Department, University Hospital of Sant Joan d'Alacant, 03550 Sant Joan d'Alacant, Spain.; Gutiérrez-Aguilar G; Pediatrics Unit, Hospital Universitario de Jerez de la Frontera, 11407 Jerez de la Frontera, Spain.; Alonso-Luengo O; Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.; Málaga I; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; Hedrera-Fernández A; Child Neurology Unit, Pediatrics Department, Hospital Universitario Central de Asturias, 33011 Oviedo, Spain.; García-Cazorla À; Neurometabolic Unit, Department of Neurology, Hospital Sant Joan de Déu-CIBERER, 08950 Barcelona, Spain.; Soto D; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.; Olivella M; Bioinfomatics and Medical Statistics Group, University of Vic-Central University of Catalonia, 08500 Vic, Spain.; Altafaj X; Neurophysiology Laboratory, Department of Biomedicine, Faculty of Medicine and Health Sciences, Institute of Neurosciences, University of Barcelona, 08036 Barcelona, Spain.; August Pi i Sunyer Biomedical Research Institute (IDIBAPS), University of Barcelona, 08036 Barcelona, Spain.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Illescas S; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Diaz-Osorio Y; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Serradell A; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Toro-Soria L; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Musokhranova U; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Juliá-Palacios N; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; Ribeiro-Constante J; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; Altafaj X; Neurophysiology Laboratory, Department of Biomedicine, Institute of Neurosciences, Faculty of Medicine and Health Sciences, University of Barcelona, August Pi i Sunyer Biomedical Research Institute (IDIBAPS), Barcelona, Spain.; Olivella M; School of International Studies, ESCI-UPF, Barcelona, Spain.; Bioinformatics and Bioimaging Group, Faculty of Science, Technology and Engineering, University of Vic-Central University of Catalonia, Vic, Spain.; O'Callaghan M; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; CIBERER-Spanish Biomedical Research Centre in Rare Diseases, Barcelona, Spain.; Darling A; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; Armstrong J; CIBERER-Spanish Biomedical Research Centre in Rare Diseases, Barcelona, Spain.; Department of Medical Genetics, Institut de Recerca Pediàtrica, Hospital Sant Joan de Déu, Barcelona, Spain.; Artuch R; CIBERER-Spanish Biomedical Research Centre in Rare Diseases, Barcelona, Spain.; Clinical Biochemistry Department, Institut de Recerca Sant Joan de Déu, Hospital Sant Joan de Déu, Barcelona, Spain.; García-Cazorla À; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; CIBERER-Spanish Biomedical Research Centre in Rare Diseases, Barcelona, Spain.; Oyarzábal A; Synaptic Metabolism and Personalized Therapies Lab, Institut de Recerca Sant Joan de Déu, Department of Neurology and MetabERN, Esplugues de Llobregat, Barcelona, Spain.; Neurometabolic Unit, Hospital Sant Joan de Déu, Department of Neurology, Esplugues de Llobregat, Barcelona, Spain.; CIBERER-Spanish Biomedical Research Centre in Rare Diseases, Barcelona, Spain.

Publisher: Wiley Country of Publication: United States NLM ID: 7910918 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1573-2665 (Electronic) Linking ISSN: 01418955 NLM ISO Abbreviation: J Inherit Metab Dis Subsets: MEDLINE

Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel Aviv, Israel.; Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.; Afshar-Saber W; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Lee HHC; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; McGinty GE; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.; Tsuboyama M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Opladen T; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; Jeltsch K; Division of Neuropediatrics & Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.; Sahin M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Phillip.Pearl@childrens.harvard.edu.

Publisher: BioMed Central Country of Publication: England NLM ID: 101483832 Publication Model: Electronic Cited Medium: Internet ISSN: 1866-1955 (Electronic) Linking ISSN: 18661947 NLM ISO Abbreviation: J Neurodev Disord Subsets: MEDLINE

Latzer, Tokatly, I; Hanson, E.; Bertoldi, M.; Garcia-Cazorla, A.; Julia-Palacios, N.; Opladen, T.; Jeltsch, K.; Rotenberg, A.; Roullet, J-B; Pearl, P.

ANNALS OF NEUROLOGY; NOV 2025, 96 pS143-pS144, 2p. Supplement: 33

Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Faculty of Medicine, Tel-Aviv University, Tel Aviv, Israel.; Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.; Cesaro S; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Strada Le Grazie 8, 37134, Verona, VR, Italy.; DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; Arning E; Institute of Metabolic Disease, Baylor Scott & White Research Institute, Dallas, TX, USA.; Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA.; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Lee HHC; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, Boston, MA, 02115, USA.; Opladen T; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; Jeltsch K; Division of Neuropediatrics and Metabolic Medicine, University Children's Hospital Heidelberg, Im Neuenheimer Feld 430, 69120, Heidelberg, Germany.; García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain.; Gibson KM; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA.; Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Strada Le Grazie 8, 37134, Verona, VR, Italy. mita.bertoldi@univr.it.; Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, 300 Longwood Ave, Boston, MA, 02115, USA. Phillip.Pearl@childrens.harvard.edu.

Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7613873 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1203 (Electronic) Linking ISSN: 03406717 NLM ISO Abbreviation: Hum Genet Subsets: MEDLINE

Tokatly Latzer I; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; School of Medicine, Faculty of Medical and Health Sciences, Tel-Aviv University, Tel Aviv, Israel. Electronic address: itay.tokatlylatzer@childrens.harvard.edu.; Hanson E; Human Neurobehavioral Core Services, Division of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; Rosamund Stone Zander Translational Neuroscience Center, Boston Children's Hospital, MA 02115, USA. Electronic address: Ellen.Hanson@childrens.harvard.edu.; Bertoldi M; Department of Neuroscience, Biomedicine and Movement Sciences, University of Verona, Verona, Italy. Electronic address: mita.bertoldi@univr.it.; DiBacco ML; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Melissa.DiBacco@childrens.harvard.edu.; Aygun D; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: deniz.aygun@einsteinmed.edu.; Afacan O; Department of Radiology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: onur.afacan@childrens.harvard.edu.; García-Cazorla À; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: agarcia@sjdhospitalbarcelona.org.; Juliá-Palacios N; Neurometabolic Unit, Neurology Department, Institut de Recerca, Hospital Sant Joan de Déu, Barcelona, Spain. Electronic address: nataliaalexandra.julia@sjd.es.; Opladen T; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Thomas.Opladen@med.uni-heidelberg.de.; Hübschmann OK; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Oya.KuseyriHuebschmann@med.uni-heidelberg.de.; Jeltsch K; Heidelberg University, Medical Faculty Heidelberg, Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, Heidelberg, Germany. Electronic address: Kathrin.Jeltsch@med.uni-heidelberg.de.; Aden P; Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address: UXPEAD@ous-hf.no.; Oppebøen M; Department of Clinical Neurosciences for Children, Oslo University Hospital, Oslo, Norway. Electronic address: maropp@ous-hf.no.; Rotenberg A; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA; F.M. Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA. Electronic address: alexander.rotenberg@childrens.harvard.edu.; Tsuboyama M; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: melissa.tsuboyama@childrens.harvard.edu.; Roullet JB; Department of Pharmacotherapy, College of Pharmacy and Pharmaceutical Sciences, Washington State University, Spokane, WA, USA. Electronic address: j.roullet@wsu.edu.; Pearl PL; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA. Electronic address: Phillip.Pearl@childrens.harvard.edu.

Publisher: Academic Press Country of Publication: United States NLM ID: 9805456 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-7206 (Electronic) Linking ISSN: 10967192 NLM ISO Abbreviation: Mol Genet Metab Subsets: MEDLINE

Himmelreich, Nastassja ; Bertoldi, Mariarita ; Alfadhel, Majid ; Alghamdi, Malak Ali ; Anikster, Yair ; Bao, Xinhua ; Bashiri, Fahad A. ; Zeev, Bruria Ben ; Bisello, Giovanni ; Ceylan, Ahmet Cevdet ; Chien, Yin-Hsiu ; Choy, Yew Sing ; Elsea, Sarah H. ; Flint, Lisa ; García-Cazorla, Àngels ; Gijavanekar, Charul ; Gümüş, Emel Yılmaz ; Hamad, Muddathir H. ; Hişmi, Burcu ; Honzik, Tomas ; Kuseyri Hübschmann, Oya ; Hwu, Wuh-Liang ; Ibáñez-Micó, Salvador ; Jeltsch, Kathrin ; Juliá-Palacios, Natalia ; Kasapkara, Çiğdem Seher ; Kurian, Manju A. ; Kusmierska, Katarzyna ; Liu, Ning ; Ngu, Lock Hock ; Odom, John D. ; Ong, Winnie Peitee ; Opladen, Thomas ; Oppeboen, Mari ; Pearl, Phillip L. ; Pérez, Belén ; Pons, Roser ; Rygiel, Agnieszka Magdalena ; Shien, Tan Ee ; Spaull, Robert ; Sykut-Cegielska, Jolanta ; Tabarki, Brahim ; Tangeraas, Trine ; Thöny, Beat ; Wassenberg, Tessa ; Wen, Yongxin ; Yakob, Yusnita ; Yin, Jasmine Goh Chew ; Zeman, Jiri ; Blau, Nenad

In Molecular Genetics and Metabolism August 2023 139(4)