Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Franciele Fátima Lopes"'
Autor:
Matheus Vernet Machado Bressan Wilke, Fabiano Poswar, Wyllians Vendramini Borelli, Kristiane Michelin Tirelli, Dévora Natalia Randon, Franciele Fátima Lopes, Fernanda Bender Pasetto, Fernanda Medeiros Sebastião, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio da Silva, Francyne Kubaski, Artur Francisco Schumacher Schuh, Roberto Giugliani, Ida Vanessa Doederlein Schwartz
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 18, Iss 1, Pp 1-10 (2023)
Abstract Background Parkinson’s disease (PD) is the second most common neurodegenerative disease worldwide. Its classic motor symptoms may be preceded by non-motor symptoms (NMS). Population studies have identified GBA variants as risk factors for
Externí odkaz:
https://doaj.org/article/bf6ad57cb09b45cb9daa95c408bf30fb
Autor:
Fernanda Medeiros Sebastião, Kristiane Michelin-Tirelli, Fernanda Bender, Franciele Fátima Lopes, Inamara Moraes, Francyne Kubaski, Roberto Giugliani, Maira Burin
Publikováno v:
Genetics and Molecular Biology, Vol 45, Iss 1 (2021)
Abstract The COVID-19 pandemic led to the reorganization of health care in several countries, including Brazil. Inborn Errors of Metabolism (IEM) are a group of rare and difficult to diagnose genetic diseases caused by pathogenic variants in genes th
Externí odkaz:
https://doaj.org/article/665ffbb72da64833b33fb1f99a7fb7fb
Autor:
Franciele Fátima Lopes, Angela Sitta, Daniella de Moura Coelho, Graziela Schmitt Ribas, Jéssica Lamberty Faverzani, Bianca Gomes dos Reis, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
International Journal of Developmental Neuroscience. 82:771-787
Urea cycle disorders (UCD) are a group of genetic diseases caused by deficiencies in the enzymes and transporters involved in the urea cycle. The impairment of the cycle results in ammonia accumulation, leading to neurological dysfunctions and poor o
Autor:
Carlos Eduardo Diaz Jacques, Franciele Fátima Lopes, Edina Poletto, Luisa Natalia Pimentel Vera, Priscila Vianna, Luiza Steffens Reinhardt, Guilherme Baldo, Carmen Regla Vargas
Publikováno v:
Metabolic Brain Disease. 38:519-529
Mucopolysaccharidosis type II (MPS II or Hunter Syndrome) is a lysosomal disease caused by deficient degradation of glycosaminoglycans (GAGs) heparan sulfate and dermatan sulfate due to the deficiency of the enzyme iduronate-2-sulfatase. The main tre
Autor:
Franciele Fátima Lopes, Jéssica Lamberty Faverzani, Tatiane Hammerschmidt, Camila Aguilar Delgado, Julia Ferreira de Oliveira, Moacir Wajner, Carmen Regla Vargas
Publikováno v:
Archives of Biochemistry and Biophysics. 736:109526
Autor:
Adriane Ribeiro Teixeira, Karina Girelli, Silvia Dornelles, Franciele Fátima Lopes, Luise Stumpf Hubner, Gabriela de Castro Machado
Publikováno v:
International Archives of Otorhinolaryngology. 18