The Role of Hyperhomocysteinemia in Disease

by Vargas,Carmen R., Sitta,Angela, Wajner,Moacir
Published 2018

In vitro effect of globotriaosylceramide on electron transport chain complexes and redox parameters

by ALVARIZ,RAFAELA M., MOREIRA,ISABEL T.D.S., CURY,GABRIELA K., VARGAS,CARMEN R., BARSCHAK,ALETHÉA G.
Published 2019

Screening for organic acidurias and aminoacidopathies in high-risk Brazilian patients: Eleven-year experience of a reference center

by Wajner,Moacir, Sitta,Angela, Kayser,Aline, Deon,Marion, Groehs,Ana C., Coelho,Daniella M., Vargas,Carmen R.
Published 2019

Acidúrias orgânicas: diagnóstico em pacientes de alto risco no Brasil

by Wajner,Moacir, Barschak,Alethéa G., Luft,Ana Paula, Pires,Ricardo, Grillo,Eugênio, Lohr,Alfredo, Funayama,Carolina, Sanseverino,Maria Teresa, Giugliani,Roberto, Vargas,Carmen R.
Published 2001

Responsividade à tetrahidrobiopterina em pacientes com deficiência de fenilalanina hidroxilase

by Giugliani,Luciana, Sitta,Angela, Vargas,Carmen R, Santana-da-Silva,Luiz C, Nalin,Tatiéle, Saraiva-Pereira,Maria Luiza, Giugliani,Roberto, Schwartz,Ida Vanessa D
Published 2011

Clinical and biochemical findings in 7 patients with X-linked adrenoleukodystrophy treated with Lorenzo's Oil

by Vargas,Carmen R., Barschak,Alethéa G., Coelho,Daniella M., Furlanetto,Vivian, Souza,Carolina F.M. de, Karam,Simone M., Jardim,Laura, Wajner,Moacir, Giugliani,Roberto
Published 2000

The value of fasting in the diagnosis of medium-chain acyl-CoA dehydrogenase deficiency

by Vargas,Carmen R, Deon,Marion, Sitta,Angela, Coelho,Daniella M, Silva,Patricia D, Murussi,Larissa, Fleith,Laura V, Crespo,Carolina, Wajner,Moacir, Sanseverino,Maria Teresa V
Published 2020

X-linked adrenoleukodystrophy: clinical and laboratory findings in 15 Brazilian patients

by Vargas,Carmen R., Coelho,Daniella de M., Barschak,Alethéa G., Souza,Carolina F.M. de, Puga,Ana C.S., Schwartz,Ida V.D., Jardim,Laura, Giugliani,Roberto
Published 2000

Prevalence of the most common pathogenic variants in three genes for inborn errors of metabolism associated with sudden unexpected death in infancy: a population-based study in sou...

by Randon,Dévora N., Sperb-Ludwig,Fernanda, Vianna,Fernanda S. L., Becker,Ana P. P., Vargas,Carmen R., Sitta,Angela, Sant’Ana,Alexia N., Schwartz,Ida V. D., Bitencourt,Fernanda H. de
Published 2020