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3358 Developmental Outcomes of Aicardi Goutieres Syndrome

OBJECTIVES/SPECIFIC AIMS: Metachromatic leukodystrophy (MLD) is a rare, lysosomal storage disorder caused by decreased enzymatic activity of arylsulfatase A. This can be the result of mutations in the ASA gene, or in rare cases PSAP. Historically, MLD has been subdivided into 3 forms based on age of...

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Detalhes bibliográficos
Publicado no:J Clin Transl Sci
Main Authors: Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado em: Cambridge University Press 2019
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC6799265/
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1017/cts.2019.106
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