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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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Detaylı Bibliyografya
Yayımlandı:Orphanet J Rare Dis
Asıl Yazarlar: Bascou, Nicholas, DeRenzo, Anthony, Poe, Michele D., Escolar, Maria L.
Materyal Türü: Artigo
Dil:Inglês
Baskı/Yayın Bilgisi: BioMed Central 2018
Konular:
Online Erişim: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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