Zobrazeno 1 - 6
of 6
pro vyhledávání: '"Bruna Donida"'
Autor:
Caroline Paula Mescka, Fernanda Poletto, Bruna Donida, Andrea Pereira Rosa, Camila Vieira Pinheiro, Esteban Alberto Gonzalez, Felipe Maciel Catarino, Carlos Severo Dutra-Filho, Guilherme Baldo, Angela Sitta, Daniella de Moura Coelho, Carmen Regla Vargas
Publikováno v:
Metabolic Brain Disease. 36:1015-1027
Maple syrup urine disease (MSUD) is a genetic disorder that leads the accumulation of branched-chain amino acids (BCAA) leucine (Leu), isoleucine, valine and metabolites. The symptomatology includes psychomotor delay and mental retardation. MSUD ther
Autor:
Bruna Donida, Carlos Eduardo Diaz Jacques, Caroline Paula Mescka, Desirèe Padilha Marchetti, Graziela S. Ribas, Carmen Regla Vargas, Daiane Rodrigues, Roberto Giugliani
Publikováno v:
Clinica Chimica Acta. 466:46-53
Lysosomal Storage Disorders (LSD) comprise a heterogeneous group of >50 genetic disorders caused by mutations in genes that encode lysosomal enzymes, transport proteins or other gene products essential for a functional lysosomal system. As a result,
Publikováno v:
Cellular and Molecular Neurobiology. 36:497-512
X-linked adrenoleukodystrophy (X-ALD) is the most frequent peroxisomal disorder that is characterized by progressive demyelination of the white matter, adrenal insufficiency, and accumulation of very long-chain fatty acids in body fluid and tissues.
Autor:
Desirèe Padilha Marchetti, Patricia Koehler-Santos, Bruna Donida, Adriana Simon Coitinho, Carmen Regla Vargas, Laura Bannach Jardim, Daniella de Moura Coelho, Tatiane Cristina Hauschild, Marion Deon, Carlos Eduardo Diaz Jacques
Publikováno v:
Journal of cellular biochemistry. 119(1)
X-linked adrenoleukodystrophy (X-ALD) is an inherited disease characterized by progressive inflammatory demyelization in the brain, adrenal insufficiency, and an abnormal accumulation of very long chain fatty acids (VLCFA) in tissue and body fluids.
Autor:
Marion Deon, Carlos Eduardo Diaz Jacques, Laura Bannach Jardim, Desirèe Padilha Marchetti, Carmen Regla Vargas, Bruna Donida
Publikováno v:
Clinical & Biomedical Research; Vol. 37 No. 1 (2017)
Clinical and Biomedical Research; v. 37 n. 1 (2017)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
Clinical and Biomedical Research
Clinical and Biomedical Research; v. 37 n. 1 (2017)
Repositório Institucional da UFRGS
Universidade Federal do Rio Grande do Sul (UFRGS)
instacron:UFRGS
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
Clinical and Biomedical Research
Introduction: Recent evidence shows that oxidative stress seems to be related with the pathophysiology of X-linked adrenoleukodystrophy (X-ALD), a neurodegenerative disorder. Methods: In the present study, the in vitro effect of N-acetyl-L-cysteine (
Autor:
Carolina Fischinger Moura de Souza, Caroline Paula Mescka, Carlos Eduardo Diaz Jacques, Maira Graeff Burin, Bruna Donida, Roberto Giugliani, Daiane Rodrigues, Carmen Regla Vargas, Fernanda Hendges de Bitencourt, Desirèe Padilha Marchetti
Publikováno v:
Biochimica et biophysica acta. 1862(9)
Mucopolysaccharidosis type II (MPS II) is a lysosomal storage disease caused by a deficient activity of iduronate-2-sulfatase, leading to abnormal accumulation of glycosaminoglycans (GAG). The main treatment for MPS II is enzyme replacement therapy (