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Natural History of Infantile G(M2) Gangliosidosis
OBJECTIVE: G(M2) gangliosidoses are caused by an inherited deficiency of lysosomal β-hexosaminidase and result in ganglioside accumulation in the brain. Onset during infancy leads to rapid neurodegeneration and death before 4 years of age. We set out to quantify the rate of functional decline in inf...
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| 主要な著者: | , , , , , |
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| フォーマット: | Artigo |
| 言語: | Inglês |
| 出版事項: |
American Academy of Pediatrics
2011
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| 主題: | |
| オンライン・アクセス: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3208966/ https://ncbi.nlm.nih.gov/pubmed/22025593 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2011-0078 |
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