The Natural History of Juvenile or Subacute GM2 Gangliosidosis: 21 New Cases and Literature Review of 134 Previously Reported

OBJECTIVE: Juvenile GM2 gangliosidosis is a group of inherited neurodegenerative diseases caused by deficiency of lysosomal β-hexosaminidase resulting in GM2 ganglioside accumulation in brain. The purpose of this study was to delineate the natural history of the condition and identify genotype-pheno...

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Библиографические подробности
Главные авторы: Maegawa, Gustavo H. B., Stockley, Tracy, Tropak, Michael, Banwell, Brenda, Blaser, Susan, Kok, Fernando, Giugliani, Roberto, Mahuran, Don, Clarke, Joe T. R.
Формат: Artigo
Язык:Inglês
Опубликовано: 2006
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Article
Online-ссылка:https://ncbi.nlm.nih.gov/pmc/articles/PMC2910078/
https://ncbi.nlm.nih.gov/pubmed/17015493
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1542/peds.2006-0588
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