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A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life
BACKGROUND: Krabbe disease is a rare neurodegenerative disorder caused by a deficiency in the lysosomal enzyme galactocerebrosidase. Patients with Krabbe disease present with a variable disease course depending on their age of onset. The purpose of this prospective cohort study was to characterize t...
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| Publicat a: | Orphanet J Rare Dis |
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| Autors principals: | , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
BioMed Central
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6083585/ https://ncbi.nlm.nih.gov/pubmed/30089515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-018-0872-9 |
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