Yüklüyor......
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...
Kaydedildi:
| Yayımlandı: | JIMD Rep |
|---|---|
| Asıl Yazarlar: | , , , , , |
| Materyal Türü: | Artigo |
| Dil: | Inglês |
| Baskı/Yayın Bilgisi: |
Springer Berlin Heidelberg
2015
|
| Konular: | |
| Online Erişim: | 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 |
| Etiketler: |
Etiketle
Etiket eklenmemiş, İlk siz ekleyin!
|