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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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Bibliografiska uppgifter
Huvudupphovsmän: Geer, Joseph S., Skinner, Steve A., Goldin, Ehud, Holden, Kenton R.
Materialtyp: Artigo
Språk:Inglês
Publicerad: 2010
Ämnen:
Länkar: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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