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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Authors | A A Broomfield, A Chakrapani, J E Wraith |
Journal | Journal of inherited metabolic disease
(J Inherit Metab Dis)
Vol. 33 Suppl 3
Pg. S123-7
(Dec 2010)
ISSN: 1573-2665 [Electronic] United States |
PMID | 20165920
(Publication Type: Case Reports, Journal Article)
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Topics |
- Adolescent
- Adolescent Development
- Child Development
- Genetic Predisposition to Disease
- Hematopoietic Stem Cell Transplantation
(adverse effects)
- Heredity
- Humans
- Infant
- Male
- Patient Selection
- Pedigree
- Phenotype
- Risk Factors
- Siblings
- Time Factors
- Time-to-Treatment
- Treatment Outcome
- alpha-Mannosidosis
(complications, diagnosis, enzymology, genetics, physiopathology, psychology, surgery)
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