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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)

Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease.

A 9-year-old girl with juvenile Gaucher disease underwent splenectomy and allogeneic bone marrow transplantation. Her HLA-identical brother with normal cerebroside-beta-glucosidase activity served as donor. One month after transplantation, cerebroside-beta-glucosidase activity in the lymphocytes were normal. Plasma glucosylceramide normalized already after splenectomy and further decreased after marrow transplantation. Glucosylceramide in the erythrocytes was normal around a year after transplantation. The enlarged liver normalized in size by 2 years. Gaucher cells were still present in the bone marrow 1 year after transplantation but had completely disappeared at 3 years. The patient has grown 29 cm during the 5 years that have passed after transplantation compared to 1 cm/year during 3 years before. The patient has a slight obstructive ventilatory impairment, and chest deformities have appeared. Wechsler intelligence scale performance has slowly decreased after transplantation. This may be caused by continued neuronal storage of glucosylceramide. Otherwise, this patient is active and healthy 5 years after bone marrow transplantation.[1]


  1. Long-term follow-up of the first successful bone marrow transplantation in Gaucher disease. Ringdén, O., Groth, C.G., Erikson, A., Bäckman, L., Granqvist, S., Månsson, J.E., Svennerholm, L. Transplantation (1988) [Pubmed]
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