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

Por Wajner, Moacir, Sitta, Angela, Kayser, Aline, Deon, Marion, Groehs, Ana C., Coelho, Daniella M., Vargas, Carmen R.
Publicado no Genet Mol Biol (2019)

Oxidative profile exhibited by Mucopolysaccharidosis type IVA patients at diagnosis: Increased keratan urinary levels

Por Donida, Bruna, Marchetti, Desirèe P., Jacques, Carlos Eduardo Diaz, Ribas, Graziela, Deon, Marion, Manini, Paula, da Rosa, Helen Tais, Moura, Dinara Jaqueline, Saffi, Jenifer, Giugliani, Roberto, Vargas, Carmen Regla
Publicado no Mol Genet Metab Rep (2017)