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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Detalles Bibliográficos
Publicado en:J Clin Transl Sci
Main Authors: Adang, Laura, Patel, Akshilkumar, Sherbini, Omar, Kramer-Golinkoff, Julia, Shults, Justine, Vanderver, Adeline
Formato: Artigo
Idioma:Inglês
Publicado: Cambridge University Press 2019
Assuntos:
Clinical Epidemiology/Clinical Trial
Acceso en liña: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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