Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature

por Bascou, Nicholas A., Beltran-Quintero, Maria L., Escolar, Maria L.
Publicado 2020

Improved Brain Pathology and Progressive Peripheral Neuropathy in a 15 Year Old Survivor of Infantile Krabbe Disease Treated With Umbilical Cord Transplantation

por Kofler, Julia, Beltran-Quintero, Maria L., Rugari, Anne, Zuccoli, Giulio, Klotz, Sarah, Escolar, Maria L.
Publicado 2022

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

por Beltran-Quintero, Maria L., Bascou, Nicholas A., Poe, Michele D., Wenger, David A., Saavedra-Matiz, Carlos A., Nichols, Matthew J., Escolar, Maria L.
Publicado 2019