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Considerations for the Treatment of Infantile Neuronal Ceroid Lipofuscinosis (Infantile Batten Disease)

The infantile form of neuronal ceroid lipofuscinosis (ie, infantile Batten disease) is the most rapidly progressing type and is caused by an inherited deficiency in the lysosomal enzyme palmitoyl protein thioesterase 1. The absence of enzyme activity leads to progressive accumulation of autofluoresc...

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Autor principal: Sands, Mark S.
Format: Artigo
Idioma:Inglês
Publicat: 2013
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3983784/
https://ncbi.nlm.nih.gov/pubmed/24014510
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/0883073813495960
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