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Psychosine, a marker of Krabbe phenotype and treatment effect
Newborn screening (NBS) for Krabbe disease, a rare neurodegenerative disorder caused by deficient galactocerebrosidase (GALC) enzyme activity, has recently been implemented in a number of US states. However, the spectrum of phenotypic manifestations associated with deficient GALC activity complicate...
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| Udgivet i: | Mol Genet Metab |
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| Main Authors: | , , , , , , , |
| Format: | Artigo |
| Sprog: | Inglês |
| Udgivet: |
2017
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| Fag: | |
| Online adgang: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5548593/ https://ncbi.nlm.nih.gov/pubmed/28579020 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ymgme.2017.05.015 |
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