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