Articles with "detailed profile" as a keyword



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Detailed profile of cognitive dysfunction in children with aspartylglucosaminuria

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Published in 2019 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12159

Abstract: Aspartylglucosaminuria (AGU) is a rare, recessively inherited lysosomal disease with relatively high prevalence in Finnish population. This progressive disease has a vast impact on patient's cognition and physical health, leading to intellectual disability and shorter… read more here.

Keywords: dysfunction children; age; disease; detailed profile ... See more keywords