Zobrazeno 1 - 10
of 20
pro vyhledávání: '"Suelen Porto Basgalupp"'
Autor:
Suelen Porto Basgalupp, Vivian Altmann, Filippo Pinto e Vairo, Ida Vanessa Doederlein Schwartz, Marina Siebert, Renata Cravo, Erlane M. Ribeiro, Augusto C. dos Santos, Louise L. de Camargo Pinto, Carolina C. Militão, Luiz Fernando Andrade
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 37, Iss , Pp 101006- (2023)
Gaucher disease (GD) is an autosomal recessive lysosomal disorder caused by pathogenic variants in GBA1 which result in the deficient activity of glucocerebrosidase (GCase). There are few data on the genetic characterization of Brazilian GD patients.
Externí odkaz:
https://doaj.org/article/d2a66241d68045b6bff785b464605667
Autor:
Suelen Porto Basgalupp, Marina Siebert, Charles Ferreira, Sidney Behringer, Ute Spiekerkoetter, Luciana Hannibal, Ida Vanessa Doederlein Schwartz
Publikováno v:
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-10 (2020)
Abstract Background Gaucher disease (GD) is a lysosomal disorder caused by biallelic pathogenic mutations in the GBA1 gene that encodes beta-glucosidase (GCase), and more rarely, by a deficiency in the GCase activator, saposin C. Clinically, GD manif
Externí odkaz:
https://doaj.org/article/8f5783abb437443786ed30ecf4860d10
Autor:
Antonio Gerbase, Vanessa Martins de Oliveira, Suelen Porto Basgalupp, Thayane Martins Dornelles, Michelle Pretto, Luana Pedrotti, Emerson Silveira de Brito, Eliana Márcia Wendland
Publikováno v:
DST, Vol 32 (2020)
Introduction: Syphilis is a major public health problem. Its incidence has increased in Brazil, particularly in the Southern Region. New tools are available, and immediate action is necessary. Objective: To describe the pilot study of an investigatio
Externí odkaz:
https://doaj.org/article/68a1cfc752334ccab6fa284b3c620118
Autor:
Filippo Vairo, Sidney Behringer, Ute Spiekerkoetter, Ida Vanessa Doederlein Schwartz, Suelen Porto Basgalupp, Karina Carvalho Donis, Luciana Hannibal, Louise Lapagesse de Camargo Pinto, Osvaldo Alfonso Pinto Artigalas, Marina Siebert
Publikováno v:
American Journal of Medical Genetics Part A. 185:2471-2476
Gaucher disease (GD), one of the most common lysosomal disorders, is caused by deficiency of β-glucocerebrosidase. Based on the presence and severity of neurological complications, GD is classified into types I, II (the most severe form), and III. A
Autor:
Emerson Brito, Luana Giongo Pedrotti, Thayane Martins Dornelles, Antonio Gerbase, Eliana Marcia Wendland, Vanessa Martins de Oliveira, Michele Pretto, Suelen Porto Basgalupp
Publikováno v:
Jornal Brasileiro de Doenças Sexualmente Transmissíveis. 32
Introduction: Syphilis is a major public health problem. Its incidence has increased in Brazil, particularly in the Southern Region. New tools are available, and immediate action is necessary. Objective: To describe the pilot study of an investigatio
Autor:
Marina Bessel, Suelen Porto Basgalupp, Lara Garcia, Thayane Martins Dornelles, Giovana Dos Santos, Emerson Brito, Eliana Marcia Wendland, Lucia Campos Pellanda, Pedro C. Hallal, Ana Carolina de Moura, Giovana de Miranda, Ana Carolina Monteiro da Rocha, William Jones Dartora
Publikováno v:
Diagnostics
Volume 11
Issue 8
Diagnostics, Vol 11, Iss 1441, p 1441 (2021)
Volume 11
Issue 8
Diagnostics, Vol 11, Iss 1441, p 1441 (2021)
Serological assays emerged as complementary tools to RT-PCR in the diagnosis of SARS-CoV-2 as well as being needed for epidemiological studies. This study aimed to assess the performance of a rapid test (RT) compared to that of serological tests usin
Autor:
Rodrigo Tzovenos Starosta, Filippo Vairo, Suelen Porto Basgalupp, Mário Reis Álvares-da-Silva, Alícia Dorneles Dornelles, Carlos Thadeu Schmidt Cerski, Maria Lucia Alves Pedroso, Marina Siebert, Ida Vanessa Doederlein Schwartz
Publikováno v:
Molecular Genetics and Metabolism Reports
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports, Vol 22, Iss, Pp-(2020)
Background & aims: Gaucher disease (GD) is a multisystemic disease. Liver involvement in GD is not well characterised and ranges from hepatomegaly to cirrhosis and hepatocellular carcinoma. We aim to describe, and assess the effect of treatment, on t
Autor:
Filippo Vario, Marina Siebert, Suelen Porto Basgalupp, Luciana Hannibal, Henk J. Blom, Ute Spiekerkoetter
Publikováno v:
Journal of Inborn Errors of Metabolism and Screening, Volume: 5, Article number: e160059, Published: 16 MAY 2019
Journal of Inborn Errors of Metabolism and Screening v.5 2017
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Journal of Inborn Errors of Metabolism and Screening v.5 2017
Journal of Inborn Errors of Metabolism and Screening
Instituto Genética para Todos (IGPT)
instacron:IGPT
Journal of Inborn Errors of Metabolism and Screening, Vol 5 (2017)
Untreated vitamin B 12 deficiency manifests clinically with hematological abnormalities and combined degeneration of the spinal cord and polyneuropathy and biochemically with elevated homocysteine (Hcy) and methylmalonic acid (MMA). Vitamin B 12 meta
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::38a0df97ba9039ff6f6e2a91c25da17a
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100706&lng=en&tlng=en
http://www.scielo.br/scielo.php?script=sci_arttext&pid=S2326-45942017000100706&lng=en&tlng=en
Autor:
Artur Francisco Schumacher Schuh, Matheus Vernet Machado Bressan Wilke, Tatiéle Nalin, Suelen Porto Basgalupp, Alícia Dorneles Dornelles, Ida Vanessa Doederlein Schwartz, Filippo Vairo, Otavio B. Piltcher, Marina Siebert
Publikováno v:
Orphanet Journal of Rare Diseases
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Orphanet Journal of Rare Diseases, Vol 14, Iss 1, Pp 1-7 (2019)
Background Gaucher disease (GD) is caused by deficiency of beta-glucocerebrosidase (GCase) due to biallelic variations in the GBA1 gene. Parkinson’s disease (PD) is the second most common neurodegenerative condition. The classic motor symptoms of P
Autor:
Suelen Porto Basgalupp, Lívia D'Avila Paskulin, Rodrigo Tzovenos Starosta, Ida Vanessa Doederlein Schwartz, Vitória Schütt Zizemer, Débora Bertholdo, Marina Siebert, Filippo Vairo, Kristiane Michelin-Tirelli
Publikováno v:
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Molecular Genetics and Metabolism Reports
Molecular Genetics and Metabolism Reports, Vol 21, Iss, Pp-(2019)
Introduction: Gaucher disease (GD) type 1 is a lysosomal disease characterised by hepatosplenomegaly, anemia, thrombocytopenia, bone changes, and bone marrow infiltration. The disease is caused by biallelic pathogenic variants in GBA1 which codes for
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0fdb65495a2a3eb121919a474e2fae7b