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Mucolipidosis Type IV: A Subtle Pediatric Neurodegenerative Disorder

The mucolipidoses are a heterogenous group of autosomal recessive neurodegenerative lysosomal storage disorders. Mucolipidosis type IV is rare, is seen predominantly in the Ashkenazi Jewish population, and usually presents with global neurodevelopmental delays in infancy, subtle corneal opacificatio...

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Bibliographic Details
Main Authors: Geer, Joseph S., Skinner, Steve A., Goldin, Ehud, Holden, Kenton R.
Format: Artigo
Language:Inglês
Published: 2010
Subjects:
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC2824620/
https://ncbi.nlm.nih.gov/pubmed/20159435
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.pediatrneurol.2009.10.002
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