Abstract
Descriptions of the outcome of aspartylglucosaminuria (AGU) were analysed, and a comprehensive summary table of symptoms and signs by age was designed.
Conclusion:
The multifarious progressive nature of AGU is obvious in the skills and abilities of patients, as well as in their personality, general health and physical appearance.
MeSH terms
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Adolescent
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Adult
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Aspartylglucosaminuria
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Aspartylglucosylaminase / genetics*
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Aspartylglucosylaminase / urine*
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Child
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Child, Preschool
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Disease Progression
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Female
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Finland / epidemiology
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Genetic Predisposition to Disease*
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Humans
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Incidence
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Infant, Newborn
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Male
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Metabolism, Inborn Errors / diagnosis
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Metabolism, Inborn Errors / epidemiology*
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Metabolism, Inborn Errors / genetics*
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Middle Aged
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Risk Assessment