Zobrazeno 1 - 10 of 186 pro vyhledávání: '"Giugliani, L"'
1
Akademický článek
Sanfilippo syndrome type B: Analysis of patients diagnosed by the MPS Brazil Network.
Autor: Montenegro YHA; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., de Souza CFM; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Kubaski F; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil., Trapp FB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Burin MG; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Michelin-Tirelli K; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Leistner-Segal S; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Facchin ACB; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Medeiros FS; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil., Giugliani L; PTC Farmacêutica do Brasil LTDA, São Paulo, Brazil., Ribeiro EM; Medical Genetics Service, Hospital Infantil Albert Sabin, Fortaleza, Brazil., Lourenço CM; Centro Universitário Estácio, Ribeirão Preto, Brazil.; Faculdade de Medicina de São José do Rio Preto, FAMERP, São José do Rio Preto, Brazil., Cardoso-Dos-Santos AC; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil., Ribeiro MG; Medical Genetics Service, Instituto de Puericultura e Pediatria Martagão Gesteira/UFRJ, Rio de Janeiro, Brazil., Kim CA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Castro MAA; Genetic Unity, Instituto da Criança HC FMUSP, São Paulo, Brazil., Embiruçu EK; Science of Life Department, Universidade do Estado da Bahia, Salvador, Brazil., Steiner CE; Department of Medical Genetics and Genomic Medicine, Faculdade de Ciências Médicas/UNICAMP, São Paulo, Brazil., Moreira MLC; Hospital Santa Casa da Misericordia, Campo Grande, Brazil., Montano HQ; Hospital Verdi Cevallos, Portoviejo, Ecuador., Baldo G; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil., Giugliani R; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, Brazil.; Post-graduate Program in Genetics and Molecular Biology, Department of Genetics/UFRGS, Porto Alegre, Brazil.; INAGEMP, Porto Alegre, Brazil.; MPS Brazil Network, Medical Genetics Service, HCPA, Porto Alegre, Brazil.
Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 760-767. Date of Electronic Publication: 2021 Nov 22.
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2
Akademický článek
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3
Akademický článek
Morquio-like dysostosis multiplex presenting with neuronopathic features is a distinct GLB1 -related phenotype.
Autor: Stockler-Ipsiroglu S; Department of Pediatrics University of British Columbia Vancouver Canada.; Division of Biochemical Genetics BC Children's Hospital Vancouver Canada.; BC Children's Hospital Research Institute Vancouver Canada., Yazdanpanah N; Department of Pediatrics University of British Columbia Vancouver Canada., Yazdanpanah M; Department of Pediatrics University of British Columbia Vancouver Canada., Moisa Popurs M; Department of Pediatrics University of British Columbia Vancouver Canada.; Division of Biochemical Genetics BC Children's Hospital Vancouver Canada., Yuskiv N; Department of Pediatrics University of British Columbia Vancouver Canada.; Division of Biochemical Genetics BC Children's Hospital Vancouver Canada., Schmitz Ferreira Santos ML; Hospital Infantil Pequeno Príncipe Curitiba Brazil., Ae Kim C; Instituto da Criança, Faculdade de Medicina, USP São Paulo Brazil., Fischinger Moura de Souza C; Serviço de Genética Médica, HCPA Porto Alegre Brazil., Marques Lourenço C; Faculdade de Medicina Centro Universitário Estácio Ribeirão Preto Brazil., Steiner CE; Departamento de Genética Médica, Faculdade de Medicina UNICAMP Campinas Brazil., Federhen A; Serviço de Genética Médica, HCPA Porto Alegre Brazil., Giugliani L; Serviço de Genética Médica, HCPA Porto Alegre Brazil., Bastos Pereira DM; Serviço de Genética Médica, HCPA Porto Alegre Brazil., Durán-Carabali LE; Programa de Pós-Graduação em Ciências Biológicas: Fisiologia, UFRGS Porto Alegre Brazil., Giugliani R; Serviço de Genética Médica, HCPA Porto Alegre Brazil.; Departamento de Genética UFRGS Porto Alegre Brazil.; Programa de Pós-Graduação em Genética e Biologia Molecular, UFRGS Porto Alegre Brazil.; INAGEMP Porto Alegre Brazil.; DR BRASIL, HCPA Porto Alegre Brazil.
Publikováno v: JIMD reports [JIMD Rep] 2021 Mar 08; Vol. 60 (1), pp. 23-31. Date of Electronic Publication: 2021 Mar 08 (Print Publication: 2021).
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4
Stable or improved neurological manifestations during miglustat therapy in patients from the international disease registry for Niemann-Pick disease type C: An observational cohort study
Autor: Patterson, M. C, Mengel, E, Vanier, M. T, Schwierin, B, Muller, A, Cornelisse, P, Pineda, M, Amado-Fondo, A, Amraoui, Y, Andria, G, Arellano, M, Audoin, B, Azcona, C, Barr, C, Baruteau, J, Baumgartner, C, Bell, L, Bembi, B, Benneddif, K, Bernard, G, Bobocea, N, Bodzioch, M, Boettcher, T, Bonnan, M, Broue, P, Bruni, A, Caceres, M, Camino, R, Campbell, E, Cances, C, Cannell, P, Cesar, J, Chabrol, B, Chakrapani, A, Colao, R, Collet, A, Corsetti, T, Cousins, A, Covanis, A, Cox, T, Cuisset, J. M, Dardis, A, Das, A, Deegan, P, Dengler, T, Deodato, F, Derralynn, H, Di Donato, I, Di Rocco, M, Dinopoulos, A, Pakiela, D, Eckehard, S, Engelen, M, Eyer, D, Fecarotta, S, Federico, A, Filla, A, Fiumara, A, Fonseca, M. J, Gabrielli, O, Garcia, T, Garrote, J, Gissen, P, Giugliani, L, Greenberg, C, Heron, B, Hertzberg, C, Higgins, F, Hill, A, Hiwot, T, Hlavata, A, Hörbe-Blindt, A, Howley, E, Hussain, N, Illsinger, S, Imrie, J, Jacklin, E, Jones, S, Jovanovic, A, Kaczmarek, V, Kaphan, E, Kibaek, M, Kleinhans, P, Klünemann, Kh, Koch, S. M, Koegl-Wallner, W, Kolnikova, M, Korenke, G. C, Korinthenberg, R, Kumari, S, Lachmann, R, Lee Ann, L, Likopoulou, L, Lilienthal, E, Link, B, Lippold, M, Lopez-Laso, E, Luecke, T, Lundgren, J, Mackrell, M, Madruga, M, Maletta, R, Malinova, V, Manners, J, Marinei, R, Marquardt, T, Martins, E, Martins, A. M, Martins, N, Mcalister, L, Mccabe, A, Mckie, M, Mcmahon, S, Meehan, M, Meldgaard Lund, A, Mendozah, C, Meyer, A, Mielke, S, Milligan, A, Mir, P, Moisa, M, Mombelli, C, Morris, L, Müller Vom Hagen, J, Munoz, B, Murphy, E, Nagarajan, L, Neto, P. B, Nevsimalova, S, Nia, S, Nicolai, J, Niemann, D, Niktari, G, O'Callaghan, M. D. M, Paucar-Arce, M, Peers, K, Peintinger, L, Peralta, M, Pérez, J, Perez-Poyato, M, Petrariu, A, Puschmann, A, Raiman, J, Rask, O, Rataj, J, Raymond-Gaynor, C, Reichelt, G, Ribeiro, E, Riches, V, Roberts, A, Roelants, J, Rohrbach, M, Rokicki, D, Rolfs, A, Russo, C, Rutsch, F, Saleem, R, Santos, M, Schmutz, P, Schwahn, B, Sedel, F, Semotok, J, Sharma, R, Silska, S, Silva, A, Simmons, L, Sivera, R, Skorpen, J, Sole, G, Souza, C, Stadlober-Degwerth, M, Starling, J, Temudo, T, Tomas, M, Tranchant, C, Uziel, G, Valayannopoulous, V, Van Den Hout, H, Van Der Tol, L, Van Spronsen, F, Vellodi, A, Verdu, A, Vilchez, J. J, Vinaixa, A, Visser, G, Voelker, J, Waldek, S, Walter, A, Walterfang, M, Wein, U, Widner, H, Wilcke, C, Wildish, L, Wraith, E, Wright, N, Xaidara, A, Yamamoto, M, Zallocco, F, Zielke, S
Publikováno v: Orphanet Journal of Rare Diseases
Orphanet journal of rare diseases, 10(1):65. BioMed Central
BACKGROUND: Niemann-Pick disease type C (NP-C) is a rare neurovisceral disease characterised by progressive neurological degeneration, where the rate of neurological disease progression varies depending on age at neurological onset. We report longitu
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8cd7081ec1efa0869586839008ff46d7
http://hdl.handle.net/11588/636258
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5
Akademický článek
13 - ELADOCAGENE EXUPARVOVEC GENE THERAPY IMPROVES MOTOR DEVELOPMENT IN PATIENTS WITH AROMATIC L-AMINO ACID DECARBOXYLASE DEFICIENCY.
Autor: Pachelli, P.E. (AUTHOR), Giugliani, L. (AUTHOR), Federhen, A. (AUTHOR), Wang, A. (AUTHOR), Russel, A. (AUTHOR), Roubertie, A. (AUTHOR), Chien, Y-H. (AUTHOR), Lee, N-C. (AUTHOR), Tai, C-H. (AUTHOR), Wuh-Liang, P. (AUTHOR)
Publikováno v: Cytotherapy (Elsevier Inc.). 2022 Supplement, Vol. 24 Issue 10, pS5-S6. 2p.
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6
Akademický článek
Advances in Intrathecal Nanoparticle Delivery: Targeting the Blood–Cerebrospinal Fluid Barrier for Enhanced CNS Drug Delivery.
Autor: Madadi, Ahmad Khalid1 (AUTHOR) khalidmadadi@yahoo.com, Sohn, Moon-Jun1,2 (AUTHOR) mjsohn@paik.ac.kr
Publikováno v: Pharmaceuticals (14248247). Aug2024, Vol. 17 Issue 8, p1070. 33p.
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7
Akademický článek
Clinical findings in Brazilian patients with adult GM1 gangliosidosis.
Autor: Giugliani L; National Institute of Population Medical Genetics (INAGEMP) Porto Alegre Brazil., Steiner CE; Department of Medical Genetics Faculdade de Medicina, UNICAMP Campinas Brazil., Kim CA; Instituto da Criança Hospital das Clínicas, FM, USP São Paulo Brazil., Lourenço CM; Centro Universitário Estácio de Ribeirão Preto Ribeirão Preto Brazil., Santos MLSF; Hospital Infantil Pequeno Príncipe Curitiba Brazil., de Souza CFM; Medical Genetics Service, HCPA Porto Alegre Brazil., Brusius-Facchin AC; Medical Genetics Service, HCPA Porto Alegre Brazil., Baldo G; Gene Therapy Center, HCPA Porto Alegre Brazil.; Department of Physiology UFRGS Porto Alegre Brazil.; Post-Graduate Program in Physiology UFRGS Porto Alegre Brazil., Riegel M; Medical Genetics Service, HCPA Porto Alegre Brazil.; Post-Graduate Program in Genetics and Molecular Biology UFRGS Porto Alegre Brazil., Giugliani R; National Institute of Population Medical Genetics (INAGEMP) Porto Alegre Brazil.; Medical Genetics Service, HCPA Porto Alegre Brazil.; Post-Graduate Program in Genetics and Molecular Biology UFRGS Porto Alegre Brazil.; Department of Genetics UFRGS Porto Alegre Brazil.
Publikováno v: JIMD reports [JIMD Rep] 2019 Jul 17; Vol. 49 (1), pp. 96-106. Date of Electronic Publication: 2019 Jul 17 (Print Publication: 2019).
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8
Akademický článek
Clinical research challenges in rare genetic diseases in Brazil.
Autor: Giugliani L; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, RS, Brazil., Vanzella C; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Zambrano MB; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Donis KC; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Wallau TKW; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Costa FMD; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Giugliani R; Clinical Research Group in Medical Genetics, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil.; National Institute of Population Medical Genetics (INAGEMP), Porto Alegre, RS, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul (UFRGS), Porto Alegre, RS, Brazil.
Publikováno v: Genetics and molecular biology [Genet Mol Biol] 2019; Vol. 42 (1 suppl 1), pp. 305-311. Date of Electronic Publication: 2019 Jun 03.
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9
Akademický článek
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10
Akademický článek
Neurocognitive and somatic stabilization in pediatric patients with severe Mucopolysaccharidosis Type I after 52 weeks of intravenous brain-penetrating insulin receptor antibody-iduronidase fusion protein (valanafusp alpha): an open label phase 1-2 trial.
Autor: Giugliani R; Hospital de Clínicas de Porto Alegre and UFRGS, Porto Alegre, Brazil., Giugliani L; Hospital de Clínicas de Porto Alegre and UFRGS, Porto Alegre, Brazil., de Oliveira Poswar F; Hospital de Clínicas de Porto Alegre and UFRGS, Porto Alegre, Brazil., Donis KC; Hospital de Clínicas de Porto Alegre and UFRGS, Porto Alegre, Brazil., Corte AD; Hospital de Clínicas de Porto Alegre and UFRGS, Porto Alegre, Brazil., Schmidt M; ArmaGen, Inc., 26679 Agoura Road, Calabasas, CA, USA., Boado RJ; ArmaGen, Inc., 26679 Agoura Road, Calabasas, CA, USA., Nestrasil I; Department of Pediatrics and Adolescent Health, University of Minnesota, 717 Delaware St. SE, Minneapolis, MN, 55414, USA., Nguyen C; Department of Pediatrics and Adolescent Health, University of Minnesota, 717 Delaware St. SE, Minneapolis, MN, 55414, USA., Chen S; Department of Radiology, Duke University, Durham, NC, 27710, USA., Pardridge WM; ArmaGen, Inc., 26679 Agoura Road, Calabasas, CA, USA. wpardrid@ucla.edu.
Publikováno v: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2018 Jul 05; Vol. 13 (1), pp. 110. Date of Electronic Publication: 2018 Jul 05.
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