Zobrazeno 1 - 10
of 360
pro vyhledávání: '"Guelbert N"'
Autor:
Guelbert N; Clínica Universitaria Reina Fabiola, Córdoba, Argentina., Espitia Segura OM; Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Amoretti C; Hospital Universitário Professor Edgar Santos, Salvador, Brazil., Arteaga Arteaga A; Clínica León XIII, Medellín, Colombia., Atanacio NG; Hospital de Niños Pedro de Elizalde (HNPE), Buenos Aires, Argentina., Bazan Natacha S; Hospital Italiano Buenos Aires, Buenos Aires, Argentina., Carvalho EDF; Christus University Center (UNICHRISTUS), Fortaleza, Brazil.; General Hospital Dr. Cesar Cals, Fortaleza, Brazil., Carvalho de Andrade MDF; Christus University Center (UNICHRISTUS), Fortaleza, Brazil.; General Hospital Dr. Cesar Cals, Fortaleza, Brazil.; Universidade Estadual do Ceará (UECE), Fortaleza, Brazil.; Hospital Universitário do Ceará, Fortaleza, Brazil.; Faculdadde Paulo Picanço, Fortaleza, Brazil., Denzler IM; Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina., Durand C; Laboratorio de Neuroquímica Dr. N.A. Chamoles, Ciudad Autónoma de Buenos Aires, Argentina., Ribeiro E; Hospital Infantil Albert Sabin, Fortaleza, Brazil., Giugni JC; Hospital Dr. Guillermo Rawson, San Juan, Argentina., González G; Centro Hospitalario Pereira Rossell (CHPR), Montevideo, Uruguay., González Moron D; Hospital JM Ramos Mejía, Buenos Aires, Argentina., Guelbert G; Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Hernández Rodriguez ZJ; Hospital Central de la Policía Nacional, Bogotá, Colombia., Embiruçu Emilia K; Hospital Universitario Professor Edgard Santos, Salvador, Brazil., Kauffman MA; Hospital JM Ramos Mejía, Buenos Aires, Argentina., Mancilla NI; Universidad Nacional de Colombia, Bogotá, Colombia., Marcon L; Instituto de Neurología y desarrollo (INEDEM), Buenos Aires, Argentina., Marques Pereira A; Hospital Moinhos de Vento, Porto Alegre, Brazil., Fischinger Moura de Souza C; Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil., Muñoz VA; Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Naranjo Flórez RA; Fundación Hospital Pediátrico la Misericordia, Bogotá, Colombia., Pessoa AL; Hospital Infantil Albert Sabin, Fortaleza, Brazil., Ruiz MV; Centro Hospitalario Pereira Rossell (CHPR), Montevideo, Uruguay., Solano Villareal ML; Fundación Cardioinfantil, Bogotá, Colombia., Spécola N; Hospital de Niños Sor Maria Ludovica, La Plata, Argentina., Tavera LM; Fundación Conexión Neurológica, Armenia, Colombia., Tello J; Hospital Clínico San Borja Arriarán, Santiago, Chile.; Universidad de Chile, Santiago, Chile., Troncoso Schifferli M; Hospital Clínico San Borja Arriarán, Santiago, Chile.; Universidad de Chile, Santiago, Chile., Ugrina S; Hospital Provincial Neuquén, Neuquén, Argentina., Vaccarezza MM; Hospital Italiano de Buenos Aires, Ciudad Autónoma de Buenos Aires, Argentina., Vergara D; Hospital Clínico San Borja Arriarán, Santiago, Chile.; Universidad de Chile, Santiago, Chile., Villanueva MM; Hospital General de Niños Dr. Pedro Elizalde, Buenos Aires, Argentina.
Publikováno v:
Molecular genetics and metabolism reports [Mol Genet Metab Rep] 2024 Feb 01; Vol. 38, pp. 101060. Date of Electronic Publication: 2024 Feb 01 (Print Publication: 2024).
Autor:
Larroudé, M.S. *, Aguilar, G., Rossi, I., Drelichman, G., Fernandez Escobar, N., Basack, N., Slago, M., Schenone, A., Fynn, A., Cuello, M.F., Fernandez, R., Ruiz, A., Reichel, P., Guelbert, N., Robledo, H., Watman, N., Bolesina, M., Elena, G., Veber, S.E., Pujal, G., Galvan, G., Chain, J.J., Arizo, A., Bietti, J., Aznar, M., Dragosky, M., Marquez, M., Feldman, L., Muller, K., Zirone, S., Buchovsky, G., Lanza, V., Fernandez, I., Jaureguiberry, R., Barbieri, M.A., Maro, A., Zarate, G., Fernandez, G., Rapetti, M., Degano, A., Kantor, G., Albina, A., Alvarez Bollea, M., Arrocena, H., Bacciedoni, V., Del Rio, F.
Publikováno v:
In Journal of Clinical Densitometry October 2016 19(4):444-449
Autor:
Eiroa H; Department of Inborn Errors of Metabolism, Hospital de Pediatría S.A.M.I.C. Prof. Dr. J. P. Garrahan, City of Buenos Aires, Argentina., Durand C; Laboratorio Chamoles, City of Buenos Aires, Argentina., Szlago M; Hospital de Niños Dr. Ricardo Gutiérrez, City of Buenos Aires, Argentina., Pereyra M; Department of Growth and Development, Hospital Pediátrico Dr. H. J. Notti, Mendoza, Argentina., Nuñez M; Unit of Metabolism, Hospital de Niños Sor María Ludovica, La Plata, Argentina., Guelbert N; Department of Metabolic Disorders, Clínica Universitaria Reina Fabiola, Universidad Católica de Córdoba, Córdoba, Argentina., Pacheco G; Program for Neonatal Screening and Uncommon Diseases, Ministry of Public Health of Salta, Salta, Argentina., Kleppe S; Area of Inborn Errors of Metabolism, Hospital Italiano de Buenos Aires, City of Buenos Aires, Argentina.
Publikováno v:
Archivos argentinos de pediatria [Arch Argent Pediatr] 2023 Jun 01; Vol. 121 (3), pp. e202202614. Date of Electronic Publication: 2022 Oct 27.
Autor:
Guelbert G; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Servicio de Enfermedades Metabólicas Hereditarias, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Venier AC; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.; Instituto de Investigación en Ciencias de la Salud, Consejo Nacional de Investigaciones Científicas y Técnicas, Córdoba, Argentina., Cismondi IA; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Facultad de Odontología, Universidad Nacional de Córdoba, Córdoba, Argentina., Becerra A; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Servicio de Enfermedades Metabólicas Hereditarias, Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina., Vazquez JC; Centro de Investigación y Desarrollo en Inmunología y Enfermedades Infecciosas, Universidad Católica de Córdoba, Consejo Nacional de Investigaciones Científicas y Técnicas, Córdoba, Argentina., Fernández EA; Centro de Investigación y Desarrollo en Inmunología y Enfermedades Infecciosas, Universidad Católica de Córdoba, Consejo Nacional de Investigaciones Científicas y Técnicas, Córdoba, Argentina., De Paul AL; Centro de Microscopía Electrónica, Facultad de Ciencias Médicas, Universidad Nacional de Córdoba, Córdoba, Argentina.; Instituto de Investigación en Ciencias de la Salud, Consejo Nacional de Investigaciones Científicas y Técnicas, Córdoba, Argentina., Guelbert N; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Servicio de Enfermedades Metabólicas Hereditarias, Clínica Universitaria 'Reina Fabiola', Córdoba, Argentina., Noher I; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Universidad Nacional de Córdoba, Córdoba, Argentina., Pesaola F; Programa de Investigación Translacional de Lipofuscinosis Ceroidea Neuronal (NCL Program), Hospital de Niños de la Santísima Trinidad, Córdoba, Argentina.; Department of Pediatrics, Washington University in Saint Louis School of Medicine, St. Louis, MO, United States.
Publikováno v:
Frontiers in neurology [Front Neurol] 2022 Aug 12; Vol. 13, pp. 920421. Date of Electronic Publication: 2022 Aug 12 (Print Publication: 2022).
Autor:
Sundberg, E., Magnusson, B., Ferreira, C. R., Grant, C., Mitchell, J., Paul Harmatz, Mungan, N. O., Bulut, F. D., Lampe, C., Guelbert, N., Arslan, N., Makay, B., Puri, R. D., Bijarnia-Mahay, S., Selim, L., El Din, I. Gamal, Kapoor, S., Dirocco, M., Ozen, S., Batu, E. D., Gokcay, G., Torcoletti, M., Karafilidis, J., Solyom, A.
Publikováno v:
Web of Science
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::42533d9ea5669db3831d0961f2f6254b
https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oai
https://avesis.deu.edu.tr/publication/details/15b8dd89-23cd-444f-99b4-7c442cf51584/oai
Autor:
Augustine EF; Department of Neurology and Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland; Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York. Electronic address: augustinee@kennedykrieger.org., Adams HR; Departments of Neurology and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York., de Los Reyes E; Department of Pediatrics and Neurology, Nationwide Children's Hospital, The Ohio State University, Columbus, Ohio., Drago K; Hospice Consultant, Lake Zurich, Illinois., Frazier M; Rare Disease Advocate and Consultant, Columbus, Ohio., Guelbert N; Metabolic Diseases Section, Children's Hospital of Cordoba, Cordoba, Argentina., Laine M; Department of Pediatric Neurology, Helsinki University Hospital and University of Helsinki, Helsinki, Finland., Levin T; Medical Writing Consultant, Atlanta, Georgia., Mink JW; Departments of Neurology, Neuroscience, and Pediatrics, University of Rochester School of Medicine and Dentistry, Rochester, New York., Nickel M; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Peifer D; Nationwide Children's Hospital, Columbus, Ohio., Schulz A; Department of Pediatrics, University Medical Center Hamburg-Eppendorf, Hamburg, Germany., Simonati A; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy., Topcu M; Professor Emeritus, Department of Pediatric Neurology, Hacettepe University, Ankara, Turkey., Turunen JA; Department of Ophthalmology, University of Helsinki and Helsinki University Hospital, Helsinki, Finland., Williams R; Children's Neurosciences Centre, Evelina London Children's Hospital, London, United Kingdom., Wirrell EC; Divisions of Epilepsy and Child and Adolescent Neurology, Department of Neurology, Mayo Clinic, Rochester, Minnesota., King S; Taylor's Tale, Charlotte, North Carolina.
Publikováno v:
Pediatric neurology [Pediatr Neurol] 2021 Jul; Vol. 120, pp. 38-51. Date of Electronic Publication: 2021 Apr 09.
Autor:
Wibbeler E; 37734University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany., Wang R; CHOC Children's Specialists, Orange, CA, USA.; University of California-Irvine School of Medicine, Irvine, CA, USA., Reyes EL; 2650Nationwide Children Hospital Columbus Ohio, Ohio State University, Columbus, OH, USA., Specchio N; Bambino Gesu, Rome, Italy., Gissen P; The NIHR Great Ormond Street Hospital, Biomedical Research Centre, London, UK., Guelbert N; Hospital de Niños de la Santísima Trinidad [Holy Trinity Children's Hospital], Cordoba, Argentina., Nickel M; 37734University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany., Schwering C; 37734University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany., Lehwald L; 2650Nationwide Children Hospital Columbus Ohio, Ohio State University, Columbus, OH, USA., Trivisano M; Bambino Gesu, Rome, Italy., Lee L; The NIHR Great Ormond Street Hospital, Biomedical Research Centre, London, UK., Amato G; Biostats LLC, Las Vegas, NV, USA., Cohen-Pfeffer J; 10926BioMarin, Novato, CA, USA., Shediac R; 10926BioMarin, Novato, CA, USA., Leal-Pardinas F; 10926BioMarin, Novato, CA, USA., Schulz A; 37734University Medical Center Hamburg-Eppendorf, Children's Hospital, Hamburg, Germany.
Publikováno v:
Journal of child neurology [J Child Neurol] 2021 May; Vol. 36 (6), pp. 468-474. Date of Electronic Publication: 2020 Dec 23.
Publikováno v:
Joint-Meeting of the German Society for Neuropathology and Neuroanatomy (DGNN) and the Scandinavian Neuropathological Society (SNS); 20160922-20160924; Hamburg; DOC16dgnnP30 /20160914/
Introduction: NCL are severe inherited neurodegenerative diseases that occur in all ages. They manifest as refractory epileptic syndrome with progressive intractable seizures, visual failure, dementia, movement disorders, and early death. Mutations i
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af0885fd054825b923bbe24b01735815
Autor:
Mole SE; University College London, London, UK. s.mole@ucl.ac.uk., Schulz A; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., Badoe E; Korle Bu Teaching Hospital, University of Ghana Medical School, Accra, Ghana., Berkovic SF; Austin Health Victoria, University of Melbourne, Heidelberg, VIC, Australia., de Los Reyes EC; Nationwide Children's Hospital, Columbus, OH, USA., Dulz S; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., Gissen P; University College London, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK., Guelbert N; Hospital de Niños de La Santísima Trinidad, Cordoba, Argentina., Lourenco CM; Universidade de São Paulo Faculdade de Medicina de Ribeirão Preto, Riberirao Preto, Brazil., Mason HL; Coufetery Comms, Lapenne, France., Mink JW; Golisano Childrens' Hospital, University of Rochester Medical Center, Rochester, NY, USA., Murphy N; Batten Disease Support and Research Association (BDSRA), Columbus, OH, USA., Nickel M; Universitätsklinikum Hamburg-Eppendorf, Hamburg, Germany., Olaya JE; Children's Hospital of Orange County, Orange County, CA, USA., Scarpa M; Regional Coordinating Center for Rare Diseases, University Hospital Udine, Udine, Italy., Scheffer IE; Austin Health Victoria, University of Melbourne, Heidelberg, VIC, Australia.; Royal Children's Hospital, Florey and Murdoch Children's Research Institutes, Melbourne, Australia., Simonati A; Department of Surgery, Dentistry, Paediatrics and Gynaecology, University of Verona School of Medicine, Verona, Italy., Specchio N; Ospedale Pediatrico Bambino Gesù, Rome, Italy., Von Löbbecke I; Practice for Child Physiotherapy, Hamburg, Germany., Wang RY; Children's Hospital of Orange County, Orange County, CA, USA., Williams RE; Evelina, London Children's Hospital, London, UK.
Publikováno v:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Apr 21; Vol. 16 (1), pp. 185. Date of Electronic Publication: 2021 Apr 21.
Autor:
Lourenço CM; School of Medicine, Estácio University Center, Ribeirão Preto, São Paulo, Brazil., Pessoa A; Pediatric Neurology Service, Albert Sabin Children's Hospital, University of Ceará State, Fortaleza, Ceará, Brazil., Mendes CC; Reference Center in Inborn Errors of Metabolism, Department of Pediatrics, Universidade Federal de São Paulo, São Paulo, Brazil., Rivera-Nieto C; Medical Genetic Service, Fundación Cardioinfantil, Bogotá, Colombia., Vergara D; Service of Children Neuropsychiatry, San Borja Arriarán Hospital, School of Medicine of the University of Chile, Santiago, Chile., Troncoso M; Service of Children Neuropsychiatry, San Borja Arriarán Hospital, School of Medicine of the University of Chile, Santiago, Chile., Gardner E; UCL MRC Laboratory for Molecular Cell Biology, University College London, London, United Kingdom., Mallorens F; Medical Genetics Section, Hospital Nacional Prof. A. Posadas, Buenos Aires, Argentina., Tavera L; Foundation Neuroconexion, Armenia, Colombia., Lizcano LA; Human Genetic Service, Bogotá, Colombia., Atanacio N; Dr. N.A Chamoles Laboratory, Pedro de Elizalde Children's Hospital, Buenos Aires, Argentina., Guelbert N; Metabolic Disease Section, Corboda Children's Hospital, Buenos Aires, Argentina., Specola N; Metabolic Unit, Children Hospital of La Plata, Buenos Aires, Argentina., Mancilla N; Department of Paediatrics, National University of Colombia, Bogotá, Colombia., de Souza CFM; Medical Genetic Service, Porto Alegre Clinic Hospital, Porto Alegre, Brazil., Mole SE; UCL MRC Laboratory for Molecular Cell Biology and UCL Great Ormond Street Institute of Child Health, University College London, London, United Kingdom.
Publikováno v:
Journal of paediatrics and child health [J Paediatr Child Health] 2021 Apr; Vol. 57 (4), pp. 519-525. Date of Electronic Publication: 2020 Dec 30.