Classic and Atypical Late Infantile Neuronal Ceroid Lipofuscinosis in Latin America: Clinical and Genetic Aspects, and Treatment Outcome with Cerliponase Alfa.

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).

Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group.

Autor: Kossoff EH; Departments of Neurology and Pediatrics Johns Hopkins Outpatient Center Baltimore Maryland U.S.A., Zupec-Kania BA; The Charlie Foundation Santa Monica California U.S.A., Auvin S; Department of Pediatric Neurology CHU Hôpital Robert Debré Paris France., Ballaban-Gil KR; Department of Neurology and Pediatrics Montefiore Medical Center/Albert Einstein College of Medicine Bronx New York U.S.A., Christina Bergqvist AG; Department of Neurology The Childrens Hospital of Philadelphia Philadelphia Pennsylvania U.S.A., Blackford R; Department of Nutrition Lurie Children's Hospital Chicago Illinois U.S.A., Buchhalter JR; Department of Pediatrics Alberta Children's Hospital Calgary Alberta Canada., Caraballo RH; Department of Neurology Hospital J P Garrahan, Capital Federal Buenos Aires Argentina., Cross JH; Department of Clinical & Experimental Epilepsy Great Ormond Street Hospital University College London London United Kingdom., Dahlin MG; Department of Clinical Neuroscience, Women's and Children's Health Karolinska Institute Stockholm Sweden., Donner EJ; Division of Neurology The Hospital for Sick Children Toronto Ontario Canada., Guzel O; Department of Pediatric Neurology Izmir Dr. Behcet Uz Children's Hospital Izmir Turkey., Jehle RS; Department of Neurology Montefiore Medical Center Bronx New York U.S.A., Klepper J; Department of Pediatrics and Neuropediatrics Children's Hospital Aschaffenburg Aschaffenburg Germany., Kang HC; Department of Pediatrics Pediatric Epilepsy Clinic Severance Children's Hospital Seoul Korea., Lambrechts DA; Department of Neurology Epilepsy Centre Kempenhaeghe Heeze The Netherlands., Liu YMC; Department of Neurology The Hospital for Sick Children Toronto Ontario Canada., Nathan JK; Department of Child Neurology Shushrusha Hospital Mumbai India., Nordli DR Jr; Department of Neurology Children's Hospital of Los Angeles Los Angeles California U.S.A., Pfeifer HH; Department of Neurology Massachusetts General Hospital Boston Massachusetts U.S.A., Rho JM; Department of Paediatrics Alberta Children's Hospital Calgary Alberta Canada., Scheffer IE; Epilepsy Research Centre The University of Melbourne Austin Health Heidelberg Victoria Australia., Sharma S; Department of Pediatrics Lady Hardinge Medical College New Delhi India., Stafstrom CE; Departments of Pediatrics and Neurology Johns Hopkins Hospital Baltimore Maryland U.S.A., Thiele EA; Department of Neurology Massachusetts General Hospital Boston Massachusetts U.S.A., Turner Z; Department of Pediatrics The Johns Hopkins University Baltimore Maryland U.S.A., Vaccarezza MM; Department of Neurology Hospital Italiano de Buenos Aires Buenos Aires Argentina., van der Louw EJTM; Department of Dietetics Sophia Children's Hospital Erasmus Medical Centre Rotterdam The Netherlands., Veggiotti P; Infantile Neuropsychiatry Neurological Institute Foundation Casimiro Mondino Pavia Italy., Wheless JW; Department of Pediatric Neurology University of Tennessee Memphis Tennessee U.S.A., Wirrell EC; Department of Neurology, Child and Adolescent Neurology Mayo Clinic Rochester Minnesota U.S.A.

Publikováno v: Epilepsia open [Epilepsia Open] 2018 May 21; Vol. 3 (2), pp. 175-192. Date of Electronic Publication: 2018 May 21 (Print Publication: 2018).

Treatment of refractory epilepsy with the modified Atkins diet.

Autor: Vaccarezza MM; Servicio de Neurología Infantil, Hospital Italiano de Buenos Aires, CABA, Argentina., Toma MV; Servicio de Neurología Infantil, Hospital Italiano de Buenos Aires, CABA, Argentina., Ramos Guevara JD; División de Neuropediatría, Fundación Hospital de la Misericordia, Universidad Nacional de Colombia, Bogotá, Colombia., Diez CG; Hospital Italiano de Buenos Aires, Hospital Italiano de Buenos Aires, CABA, Argentina., Agosta GE; Servicio de Neurología Infantil, Hospital Italiano de Buenos Aires, CABA, Argentina.

Publikováno v: Archivos argentinos de pediatria [Arch Argent Pediatr] 2014 Aug; Vol. 112 (4), pp. 348-51.

Myasthenia gravis in childhood.

Autor: Gamio S; Department of Ophthalmology, Ricardo Gutiérrez Children's Hospital, Buenos Aires, Argentina., Garcia-Erro M, Vaccarezza MM, Minella JA

Publikováno v: Binocular vision & strabismus quarterly [Binocul Vis Strabismus Q] 2004; Vol. 19 (4), pp. 223-31.