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Pathogenic Variants in GALC Gene Correlate With Late Onset Krabbe Disease and Vision Loss: Case Series and Review of Literature
Background: Krabbe disease is an autosomal recessive demyelinating disorder resulting from deficiency of the lysosomal enzyme galactocerebrosidase. While blindness is often described as a characteristic finding of the disease, it is more common in the infantile phenotype, where vision loss typically...
Shranjeno v:
| izdano v: | Front Neurol |
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| Main Authors: | , , |
| Format: | Artigo |
| Jezik: | Inglês |
| Izdano: |
Frontiers Media S.A.
2020
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| Teme: | |
| Online dostop: | https://ncbi.nlm.nih.gov/pmc/articles/PMC7593573/ https://ncbi.nlm.nih.gov/pubmed/33178108 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fneur.2020.563724 |
| Oznake: |
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