Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months

BACKGROUND: Krabbe disease is a rare neurological disorder caused by a deficiency in the lysosomal enzyme, β-galactocerebrosidase, resulting in demyelination of the central and peripheral nervous systems. If left without treatment, Krabbe disease results in progressive neurodegeneration with reduced...

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Dettagli Bibliografici
Pubblicato in:Orphanet J Rare Dis
Autori principali: Beltran-Quintero, Maria L., Bascou, Nicholas A., Poe, Michele D., Wenger, David A., Saavedra-Matiz, Carlos A., Nichols, Matthew J., Escolar, Maria L.
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2019
Soggetti:
Research
Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC6378723/
https://ncbi.nlm.nih.gov/pubmed/30777126
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-019-1018-4
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