Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Luciana Paim-Marques"'
Autor:
Luciana Paim-Marques, Amanda Virginia Cavalcante, Islane Verçosa, Paula Carneiro, Marcia Souto-Maior, Erlane Marques, Simone Appenzeller
Publikováno v:
Pediatric Rheumatology Online Journal, Vol 19, Iss 1, Pp 1-10 (2021)
Abstract Background Fabry disease (FD) is a rare, X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (⍺-GalA). During childhood, classic FD symptomatology is rare. The majo
Externí odkaz:
https://doaj.org/article/f394a65b81bb477abad96233a80bc4b0
Autor:
Paulo Ribeiro Nóbrega, João Lucas Araújo Morais, Alliane Milliane Ferreira, Alisson Dantas de Medeiros, Beatrice Araújo Duarte, Deborah Moreira Rangel, Fabrício Oliveira Lima, Anderson Rodrigues Brandão de Paiva, Luciana Paim-Marques, Fernando Kok, André Luiz Santos Pessoa, Pedro Braga-Neto, Fernanda Martins Maia Carvalho
Publikováno v:
Neurological Sciences. 44:319-327
F abry disease (FD) is an X-linked lysosomal storage disorder with accumulation of globotriosylceramide, causing neurologic involvement mainly as acroparesthesias and cerebrovascular disease. Aseptic meningitis has been reported in 11 patients with F
Publikováno v:
Journal of multidisciplinary healthcare. 15
Fabry disease (FD) is a rare, recessive X-linked, multisystemic lysosomal storage disorder (LSD) that results from a deficiency in the hydrolase alpha-galactosidase A (α-GalA) caused by a