Effects of hematopoietic stem cell transplantation on acyl-CoA oxidase deficiency: a sibling comparison study

OBJECTIVE: Acyl-CoA oxidase (ACOX1) deficiency is a rare disorder of peroxisomal very-long chain fatty acid oxidation. No reports detailing attempted treatment, longitudinal imaging, or neuropathology exist. We describe the natural history of clinical symptoms and brain imaging in two siblings with...

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Dades bibliogràfiques
Publicat a:J Inherit Metab Dis
Autors principals: Wang, Raymond Y., Monuki, Edwin S., Powers, James, Schwartz, Phillip H., Watkins, Paul A., Shi, Yang, Moser, Ann, Shrier, David A., Waterham, Hans R., Nugent, Diane J., Abdenur, Jose E.
Format: Artigo
Idioma:Inglês
Publicat: 2014
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC4332804/
https://ncbi.nlm.nih.gov/pubmed/24619150
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s10545-014-9698-3
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