Charcot Marie Tooth disease (CMT4A) due to GDAP1 mutation: report of a Colombian family

por Martin, Angela M, Maradei, Silvia J, Velasco, Harvy M
Publicado 2015

Determination of genotypic and clinical characteristics of Colombian patients with mucopolysaccharidosis IVA

por Tapiero-Rodriguez, Sandra M, Acosta Guio, Johanna C, Porras-Hurtado, Gloria Liliana, García, Natalia, Solano, Martha, Pachajoa, Harry, Velasco, Harvy M
Publicado 2018

Genotypic and bioinformatic evaluation of the alpha-l-iduronidase gene and protein in patients with mucopolysaccharidosis type I from Colombia, Ecuador and Peru

por Pineda, Tatiana, Marie, Sulie, Gonzalez, Janneth, García, Ana L., Acosta, Amparo, Morales, Manuel, Correa, Luz N., Vivas, Ricardo, Escobar, Xiomara, Protzel, Ana, Barba, Maria, Ospina, Sandra, Corredor, Clara, Mansilla, Sandra, Velasco, Harvy M.
Publicado 2014