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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...

詳細記述

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書誌詳細
主要な著者: Bley, Annette E., Giannikopoulos, Ourania A., Hayden, Doug, Kubilus, Kim, Tifft, Cynthia J., Eichler, Florian S.
フォーマット: Artigo
言語:Inglês
出版事項: American Academy of Pediatrics 2011
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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