Quantification of galactosylsphingosine in the twitcher mouse using electrospray ionization-tandem mass spectrometry
Globoid cell leukodystrophy (Krabbe disease) is an autosomal recessive inherited neurodegenerative disorder caused by the deficiency of the lysosomal enzyme β-galactosylceramidase. The pathogenesis of the disorder has been proposed to arise from the accumulation of the cytotoxic metabolite galactosy...
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| Главные авторы: | , , , |
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| Формат: | Artigo |
| Язык: | Inglês |
| Опубликовано: |
Elsevier
2001-12-01
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| Серии: | Journal of Lipid Research |
| Предметы: | |
| Online-ссылка: | http://www.sciencedirect.com/science/article/pii/S002222752031539X |
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