Zobrazeno 1 - 5
of 5
pro vyhledávání: '"Desirèe P. Marchetti"'
Autor:
Bruna Donida, Desirèe P. Marchetti, Carlos Eduardo Diaz Jacques, Graziela Ribas, Marion Deon, Paula Manini, Helen Tais da Rosa, Dinara Jaqueline Moura, Jenifer Saffi, Roberto Giugliani, Carmen Regla Vargas
Publikováno v:
Molecular Genetics and Metabolism Reports, Vol 11, Iss C, Pp 46-53 (2017)
Morquio A disease (Mucopolysaccharidosis type IVA, MPS IVA) is one of the 11 mucopolysaccharidoses (MPSs), a heterogeneous group of inherited lysosomal storage disorders (LSDs) caused by deficiency in enzymes need to degrade glycosaminoglycans (GAGs)
Externí odkaz:
https://doaj.org/article/fe0ec210696843fbbba3498aa68f3530
Autor:
Camila Simioni Vanzin, Caroline Paula Mescka, Bruna Donida, Desirèe Padilha Marchetti, Carlos Eduardo Jacques, Tatiane Hauschild, Jéssica Lamberty Faverzani, Marion Deon, Dinara Moura, Jenifer Saffi, Daniella de Moura Coelho, Moacir Wajner, Angela T.S. Wyse, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 38, Iss 1 (2018)
Introduction: Homocysteine (Hcy) tissue accumulation occurs in a metabolic disease characterized biochemically by cystathionine β-synthase (CBS) deficiency and clinically by mental retardation, vascular problems, and skeletal abnormalities. Previous
Externí odkaz:
https://doaj.org/article/b36ae36dd098482790e2470350a1ab3d
Autor:
Camila Simioni Vanzin, Caroline Paula Mescka, Bruna Donida, Desirèe Padilha Marchetti, Carlos Eduardo Jacques, Tatiane Hauschild, Jéssica Lamberty Faverzani, Marion Deon, Dinara Moura, Jenifer Saffi, Daniella de Moura Coelho, Moacir Wajner, Angela T.S. Wyse, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 38, Iss 1 (2018)
Introduction: Homocysteine (Hcy) tissue accumulation occurs in a metabolic disease characterized biochemically by cystathionine β-synthase (CBS) deficiency and clinically by mental retardation, vascular problems, and skeletal abnormalities. Previous
Externí odkaz:
https://doaj.org/article/4b0036d2b5e040b1b78efbb0a88d891f
Autor:
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
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 (
Externí odkaz:
https://doaj.org/article/ececda4a6ead42a1a346a4cf0248d50a
Autor:
Desirèe Padilha Marchetti, Bruna Donida, Marion Deon, Carlos Eduardo Jacques, Laura Bannach Jardim, Carmen Regla Vargas
Publikováno v:
Clinical and Biomedical Research, Vol 37, Iss 1 (2017)
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 (
Externí odkaz:
https://doaj.org/article/592243f1306d48bd9cb0dc4fe833cd33