Bone marrow transplantation correcting β‐galactosidase activity does not influence neurological outcome in juvenile GM1‐gangliosidosis

Summary Donor bone marrow engraftment, which resulted in complete normalization of white cell β‐galactosidase levels in a patient with presymptomatic juvenile onset GM1‐gangliosidosis (McKusick 230600), did not improve long‐term clinical outcome.

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Bibliographische Detailangaben
Veröffentlicht in:	Journal of inherited metabolic disease 2005-01, Vol.28 (5), p.797-798
Hauptverfasser:	Shield, J. P. H., Stone, J., Steward, C. G.
Format:	Artikel
Sprache:	eng
Schlagworte:	Animals beta-Galactosidase - metabolism Bone Marrow Cells - metabolism Bone Marrow Transplantation - methods Brain - metabolism Child Disease Models, Animal Dogs Female Gangliosidosis, GM1 - pathology Gangliosidosis, GM1 - therapy Humans Infant Magnetic Resonance Imaging Treatment Outcome
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Beschreibung
Zusammenfassung:	Summary Donor bone marrow engraftment, which resulted in complete normalization of white cell β‐galactosidase levels in a patient with presymptomatic juvenile onset GM1‐gangliosidosis (McKusick 230600), did not improve long‐term clinical outcome.
ISSN:	0141-8955 1573-2665
DOI:	10.1007/s10545-005-0089-7