Ontology highlight
ABSTRACT:
SUBMITTER: Bradbury AM
PROVIDER: S-EPMC7456224 | biostudies-literature | 2020 Sep
REPOSITORIES: biostudies-literature
Bradbury Allison M AM Bagel Jessica H JH Nguyen Duc D Lykken Erik A EA Pesayco Salvador Jill J Jiang Xuntian X Swain Gary P GP Assenmacher Charles A CA Hendricks Ian J IJ Miyadera Keiko K Hess Rebecka S RS Ostrager Arielle A ODonnell Patricia P Sands Mark S MS Ory Daniel S DS Shelton G Diane GD Bongarzone Ernesto R ER Gray Steven J SJ Vite Charles H CH
The Journal of clinical investigation 20200901 9
Globoid cell leukodystrophy (GLD; Krabbe disease) is a progressive, incurable neurodegenerative disease caused by deficient activity of the hydrolytic enzyme galactosylceramidase (GALC). The ensuing cytotoxic accumulation of psychosine results in diffuse central and peripheral nervous system (CNS, PNS) demyelination. Presymptomatic hematopoietic stem cell transplantation (HSCT) is the only treatment for infantile-onset GLD; however, clinical outcomes of HSCT recipients often remain poor, and pro ...[more]