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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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Détails bibliographiques
Auteurs principaux: Geer, Joseph S., Skinner, Steve A., Goldin, Ehud, Holden, Kenton R.
Format: Artigo
Langue:Inglês
Publié: 2010
Sujets:
Accès en ligne: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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