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The Spectrum of Krabbe Disease in Greece: Biochemical and Molecular Findings
Krabbe disease is an autosomal recessive neurodegenerative lysosomal storage disease caused by the deficiency of β-galactocerebrosidase. This deficiency results in the impaired degradation of β-galactocerebroside, a major myelin lipid, and of galactosylsphingosine. Based on the age of onset of neuro...
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| Publicado no: | JIMD Rep |
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| Main Authors: | , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Springer Berlin Heidelberg
2015
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5059214/ https://ncbi.nlm.nih.gov/pubmed/26108647 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/8904_2015_457 |
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