Why the study?
Does hematopoietic stem cell transplantation lead to wild-type ALD genotype and protein expression in tissues of patients with cerebral X-ALD?
Population
A family with various X-linked adrenoleukodystrophy disease forms, specifically focusing on two boys with…
Design
Case_series
Follow-up
Up to day 76 for one patient
Authors
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Mixed ALD genotypes without protein differences in one post-HSCT case; leaves open functional restoration in cerebral X-ALD.
Does hematopoietic stem cell transplantation lead to wild-type ALD genotype and protein expression in tissues of patients with cerebral X-ALD?
This study provides the first evidence that hematopoietic stem cell transplantation leads to the stable development of a wild-type X-ALD genotype and peroxisomal ALD protein expression across a variety of human tissues.
Schönberger et al. (2007) studied this question.
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