GBA1 variants in Brazilian Gaucher disease patients

Autor: Cravo, Renata, Ribeiro, Erlane M., dos Santos, Augusto C., de Camargo Pinto, Louise L., Militão, Carolina C., Andrade, Luiz Fernando, Basgalupp, Suelen Porto, Altmann, Vivian, Vairo, Filippo Pinto e, Schwartz, Ida Vanessa Doederlein, Siebert, Marina

Publikováno v: In Molecular Genetics and Metabolism Reports December 2023 37

Assessment of cellular cobalamin metabolism in Gaucher disease.

Autor: Basgalupp, Suelen Porto^1,2 (AUTHOR), Siebert, Marina^2,3 (AUTHOR), Ferreira, Charles⁴ (AUTHOR), Behringer, Sidney⁵ (AUTHOR), Spiekerkoetter, Ute⁵ (AUTHOR), Hannibal, Luciana⁵ (AUTHOR) luciana.hannibal@uniklinik-freiburg.de, Schwartz, Ida Vanessa Doederlein^1,2,6,7 (AUTHOR) ischwartz@hcpa.edu.br

Publikováno v: BMC Medical Genetics. 1/13/2020, Vol. 21 Issue 1, p1-10. 10p.

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Investigation of paternity with alleged father deceased or missing: Analysis of success at the end of the report

Autor: Basgalupp, Suelen Porto, Rodenbusch, Rodrigo, Schumacher, Simone, Gastaldo, André Zoratto, Santos Silva, Deborah Soares Bispo, Alho, Clarice Sampaio

Publikováno v: In Forensic Science International: Genetics September 2014 12:120-121

Elevated holo-transcobalamin in Gaucher disease type II: A case report.

Autor: Basgalupp SP; Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Hospital Moinhos de Vento, Porto Alegre, Brazil., Donis KC; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., Siebert M; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Unit of Laboratorial Research, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil., E Vairo FP; Center for Individualized Medicine, Mayo Clinic, Rochester, Minnesota, USA.; Department of Clinical Genomics, Mayo Clinic, Rochester, Minnesota, USA., Artigalas O; Hospital da Criança Conceição, Grupo Hospitalar Conceição (GHC), Porto Alegre, Brazil., de Camargo Pinto LL; Hospital Infantil Joana de Gusmão, Florianópolis, Brazil., Behringer S; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Germany., Spiekerkoetter U; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Germany., Hannibal L; Laboratory of Clinical Biochemistry and Metabolism, Department of General Pediatrics, Adolescent Medicine and Neonatology, Faculty of Medicine, Medical Center, University of Freiburg, Germany., Schwartz IVD; Postgraduate Program in Medical Sciences, School of Medicine, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.; Basic Research and Advanced Investigations in Neurosciences (BRAIN) Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Medical Genetics Service, Hospital de Clínicas de Porto Alegre (HCPA), Porto Alegre, Brazil.; Department of Genetics, Universidade Federal do Rio Grande do Sul, Porto Alegre, Brazil.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2021 Aug; Vol. 185 (8), pp. 2471-2476. Date of Electronic Publication: 2021 May 24.