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Neuroradiological, neurophysiological and molecular findings in infantile Krabbe disease: two case reports
Krabbe disease is an autosomal recessive neurodegenerative disorder due to a defect of the lysosomal enzyme β-galactocerebrosidase (β-GALC). Depending on the age of onset, the disease is classified into infantile and later-onset forms. We report neuroradiological, neurophysiological and molecular fi...
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| 出版年: | Balkan J Med Genet |
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| 主要な著者: | , , , , , , , , |
| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
De Gruyter
2016
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| 主題: | |
| オンライン･アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC5026284/ https://ncbi.nlm.nih.gov/pubmed/27785412 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1515/bjmg-2016-0011 |
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