Bone marrow transplantation correcting beta-galactosidase activity does not influence neurological outcome in juvenile GM1-gangliosidosis.
Donor bone marrow engraftment, which resulted in complete normalization of white cell beta-galactosidase levels in a patient with presymptomatic juvenile onset GM1-gangliosidosis (McKusick 230600), did not improve long-term clinical outcome.
Shield
J P H
JP
Bristol Royal Hospital for Children, Bristol, UK. j.p.h.shield@bristol.ac.uk
Stone
J
J
Steward
C G
CG
D000818:Animals; D001854:Bone Marrow Cells / Q000378:metabolism; D016026:Bone Marrow Transplantation / Q000379:methods*; D001921:Brain / Q000378:metabolism; D002648:Child; D004195:Disease Models, Animal; D004285:Dogs; D005260:Female; D016537:Gangliosidosis, GM1 / Q000473:pathology* / Q000628:therapy*; D006801:Humans; D007223:Infant; D008279:Magnetic Resonance Imaging; D016896:Treatment Outcome; D001616:beta-Galactosidase / Q000378:metabolism*
D001616:beta-Galactosidase