Search research articles
Contact Us
Filters
Showing results (121-130 of 164) with videos related to
Page
of 17
Sort By:
Clinical Genetics
|
September 27, 2014
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients
G Pasqualim, M G Ribeiro, G G G da Fonseca, et al.
American Journal of Medical Genetics
|
July 1, 1993
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards
S Raskin, J A Phillips, M R Krishnamani, et al.
Journal of Child Neurology
|
September 5, 2006
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil
R Rozenberg, F Kok, M G Burin, et al.
Molecular Genetics and Metabolism Reports
|
March 1, 2017
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
R Giugliani, P Harmatz, S A Jones, et al.
Neurology
|
August 29, 2007
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings
L Vedolin, I V D Schwartz, M Komlos, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2004
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy
L Jardim, L Vedolin, I V D Schwartz, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2006
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
L B Jardim, I Gomes, C B O Netto, et al.
Human Genetics
|
January 1, 1985
GM1 gangliosidosis: clinical and laboratory findings in eight families
R Giugliani, J C Dutra, M L Pereira, et al.
Molecular Genetics and Metabolism
|
December 24, 2013
In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients
G W Negretto, M Deon, M Burin, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|
May 10, 2012
Severity score system for progressive myelopathy: development and validation of a new clinical scale
R M Castilhos, D Blank, C B O Netto, et al.
Page
of 17
Search research articles
Search
Showing results (121-130 of 164) with videos related to
Sort By:
Page
of 17
Clinical Genetics
|
September 27, 2014
p.L18P: a novel IDUA mutation that causes a distinct attenuated phenotype in mucopolysaccharidosis type I patients
G Pasqualim, M G Ribeiro, G G G da Fonseca, et al.
American Journal of Medical Genetics
|
July 1, 1993
DNA analysis of cystic fibrosis in Brazil by direct PCR amplification from Guthrie cards
S Raskin, J A Phillips, M R Krishnamani, et al.
Journal of Child Neurology
|
September 5, 2006
Diagnosis and molecular characterization of non-classic forms of Tay-Sachs disease in Brazil
R Rozenberg, F Kok, M G Burin, et al.
Molecular Genetics and Metabolism Reports
|
March 1, 2017
Evaluation of impact of anti-idursulfase antibodies during long-term idursulfase enzyme replacement therapy in mucopolysaccharidosis II patients
R Giugliani, P Harmatz, S A Jones, et al.
Neurology
|
August 29, 2007
Brain MRI in mucopolysaccharidosis: effect of aging and correlation with biochemical findings
L Vedolin, I V D Schwartz, M Komlos, et al.
Journal of Inherited Metabolic Disease
|
May 26, 2004
CNS involvement in Fabry disease: clinical and imaging studies before and after 12 months of enzyme replacement therapy
L Jardim, L Vedolin, I V D Schwartz, et al.
Journal of Inherited Metabolic Disease
|
September 15, 2006
Improvement of sympathetic skin responses under enzyme replacement therapy in Fabry disease
L B Jardim, I Gomes, C B O Netto, et al.
Human Genetics
|
January 1, 1985
GM1 gangliosidosis: clinical and laboratory findings in eight families
R Giugliani, J C Dutra, M L Pereira, et al.
Molecular Genetics and Metabolism
|
December 24, 2013
In vitro effect of genistein on DNA damage in leukocytes from mucopolysaccharidosis IVA patients
G W Negretto, M Deon, M Burin, et al.
Brazilian Journal of Medical and Biological Research = Revista Brasileira De Pesquisas Medicas E Biologicas
|
May 10, 2012
Severity score system for progressive myelopathy: development and validation of a new clinical scale
R M Castilhos, D Blank, C B O Netto, et al.
Page
of 17