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Journal of Inherited Metabolic Disease

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01.12.2010 | Case Report

The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?

verfasst von: A. A. Broomfield, A. Chakrapani, J. E. Wraith

Erschienen in: Journal of Inherited Metabolic Disease | Sonderheft 3/2010

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Abstract

This article documents both the neurological and physical outcomes of the first published set of siblings undergoing transplantation at differing ages for α-mannosidosis. The older brother, the index case, was diagnosed at the age of 3 years and underwent transplantation at 13 years for the treatment of increasing somatic problems and recurrent infections. The younger brother had undergone transplantation pre-symptomatically at 6 months of age. Their clinical, radiological and developmental outcomes are documented and compared with the previous published cases, with the case for early transplantation being weighted against other potential therapies.

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Titel: The effects of early and late bone marrow transplantation in siblings with alpha-mannosidosis. Is early haematopoietic cell transplantation the preferred treatment option?
verfasst von: A. A. Broomfield
A. Chakrapani
J. E. Wraith
Publikationsdatum: 01.12.2010
Verlag: Springer Netherlands
Erschienen in: Journal of Inherited Metabolic Disease / Ausgabe Sonderheft 3/2010
Print ISSN: 0141-8955
Elektronische ISSN: 1573-2665
DOI: https://doi.org/10.1007/s10545-009-9035-4

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