المؤلفون: Félix, Têmis Maria^{Aff1, IDs1293902201809y_cor1}, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto^{Aff1, Aff6}

المصدر: International Journal for Equity in Health. 22(1)

المؤلفون: Guelbert, Norberto, Espitia Segura, Oscar Mauricio, Amoretti, Carolina, Arteaga Arteaga, Angélica, Atanacio, Nora Graciela, Bazan Natacha, Sabrina, Carvalho, Ellaine Doris Fernandes, Carvalho de Andrade, Maria Denise Fernandes, Denzler, Inés María, Durand, Consuelo, Ribeiro, Erlane, Giugni, Juan Carlos, González, Gabriel, González Moron, Dolores, Guelbert, Guillermo, Hernández Rodriguez, Zulma Janneth, Embiruçu Emilia, Katiane, Kauffman, Marcelo Andrés, Mancilla, Nury Isabel, Marcon, Laureano, Marques Pereira, Alessandra, Fischinger Moura de Souza, Carolina, Muñoz, Victor Adrián, Naranjo Flórez, Ricardo Andrés, Pessoa, André Luiz, Ruiz, María Victoria, Solano Villareal, Martha Luz, Spécola, Norma, Tavera, Lina Marcela, Tello, Javiera, Troncoso Schifferli, Mónica, Ugrina, Sonia, Vaccarezza, María Magdalena, Vergara, Diane, Villanueva, María Mercedes

المصدر: In Molecular Genetics and Metabolism Reports March 2024 38

المؤلفون: Félix, Têmis Maria, Fischinger Moura de Souza, Carolina, Oliveira, João Bosco, Rico-Restrepo, Mariana, Zanoteli, Edmar, Zatz, Mayana, Giugliani, Roberto

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::789edb5a8c399b36294b1a33d9465042

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المؤلفون: Stockler‐Ipsiroglu, Sylvia, Yazdanpanah, Nahid, Yazdanpanah, Mojgan, Moisa Popurs, Marioara, Yuskiv, Nataliya, Schmitz Ferreira Santos, Mara Lúcia, Ae Kim, Chong, Fischinger Moura de Souza, Carolina, Marques Lourenço, Charles, Steiner, Carlos Eduardo, Federhen, Andressa, Giugliani, Luciana, Bastos Pereira, Débora Maria, Durán‐Carabali, Luz Elena, Giugliani, Roberto

المصدر: Journal of Inherited Metabolic Disease Reports; Jul2021, Vol. 60 Issue 1, p23-31, 9p

المؤلفون: Poloni, Soraia, Sperb‐Ludwig, Fernanda, Borsatto, Taciane, Weber Hoss, Giovana, Doriqui, Maria Juliana R., Embiruçu, Emília K., Boa‐Sorte, Ney, Marques, Charles, Kim, Chong A., Fischinger Moura de Souza, Carolina, Rocha, Helio, Ribeiro, Marcia, Steiner, Carlos E., Moreno, Carolina A., Bernardi, Pricila, Valadares, Eugenia, Artigalas, Osvaldo, Carvalho, Gerson, Wanderley, Hector Y. C., Kugele, Johanna

المصدر: Molecular Genetics & Genomic Medicine; Mar2018, Vol. 6 Issue 2, p160-170, 11p

مصطلحات موضوعية: GENETIC mutation, HOMOCYSTINURIA, CYSTATHIONINE, GENE expression, MISSENSE mutation

المؤلفون: Bertolin Rossato, Liana, Cláudia Fernandes Nunes, Ane, Luiza Saraiva Pereira, Maria, Fischinger Moura de Souza, Carolina, Dummer, Claus, Milani, Vagner, Benck Porsch, Daiana, Bastos de Mattos, Cristiane, José Guardão Barros, Elvino

المصدر: Renal Failure; 2008, Vol. 30 Issue 1, p9-14, 6p, 1 Black and White Photograph, 2 Charts

مصطلحات موضوعية: MITOCHONDRIAL DNA, CHRONIC kidney failure, KIDNEY diseases, POLYMERASE chain reaction, HEMODIALYSIS, BLOOD cells

المؤلفون: Pinto e Vairo, Filippo, Rojas Málaga, Diana, Kubaski, Francyne, Fischinger Moura de Souza, Carolina, de Oliveira Poswar, Fabiano, Baldo, Guilherme, Giugliani, Roberto

المصدر: Biomolecules (2218-273X); Aug2020, Vol. 10 Issue 8, p1110, 1p

مصطلحات موضوعية: LYSOSOMAL storage diseases, INDIVIDUALIZED medicine, THERAPEUTICS, GENETIC disorders, ENZYME deficiency

المؤلفون: Colonetti K; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, PortoAlegre, RS, Brazil., Pinto E Vairo F; Center for Individualized Medicine, Mayo Clinic, Rochester, MN, USA; Department of Clinical Genomics, Mayo Clinic, Rochester, MN, USA., Siebert M; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, PortoAlegre, RS, Brazil; Post-Graduation Program in Sciences of Gastroenterology and Hepatology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Laboratorial Research Unit, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil., Nalin T; Ultragenyx Brasil Farmacêutica Ltda, São Paulo, SP, Brazil., Poloni S; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, PortoAlegre, RS, Brazil., Fernando Wurdig Roesch L; Department of Microbiology and Cell Science, Institute of Food and Agricultural Sciences, University of Florida, Gainesville, FL, USA., Fischinger Moura de Souza C; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil; Post-Graduation Program in Child and Adolescent Health, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil., Cabral Pinheiro F; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, PortoAlegre, RS, Brazil; Universidade Federal do Pampa, Itaqui, RS, Brazil., Vanessa Doederlein Schwartz I; Post-Graduation Program in Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Laboratory of Basic Research and Advanced Investigations in Neurosciences (BRAIN), Hospital de Clínicas de Porto Alegre, PortoAlegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, Porto Alegre, RS, Brazil. Electronic address: ischwartz@hcpa.edu.br.

المصدر: Cytokine [Cytokine] 2023 Feb; Vol. 162, pp. 156088. Date of Electronic Publication: 2022 Nov 30.

نوع المنشور: Journal Article; Research Support, Non-U.S. Gov't

بيانات الدورية: Publisher: Elsevier Science Ltd Country of Publication: England NLM ID: 9005353 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1096-0023 (Electronic) Linking ISSN: 10434666 NLM ISO Abbreviation: Cytokine Subsets: MEDLINE

مواضيع طبية MeSH: Interleukin-10* , Glycogen Storage Disease Type I*/pathology, Humans ; Chemokine CCL3 ; Chemokine CXCL10 ; Interleukin-4 ; Lymphotoxin-alpha ; Vascular Endothelial Growth Factor A ; Cytokines ; Granulocyte Colony-Stimulating Factor ; Triglycerides

SCR Disease Name: Hepatorenal form of glycogen storage disease

المؤلفون: 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.

المصدر: JIMD reports [JIMD Rep] 2021 Mar 08; Vol. 60 (1), pp. 23-31. Date of Electronic Publication: 2021 Mar 08 (Print Publication: 2021).

نوع المنشور: Journal Article

بيانات الدورية: Publisher: Wiley Country of Publication: United States NLM ID: 101568557 Publication Model: eCollection Cited Medium: Print ISSN: 2192-8304 (Print) Linking ISSN: 21928304 NLM ISO Abbreviation: JIMD Rep Subsets: PubMed not MEDLINE