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Keywords:

  • Finnish disease heritage;
  • lysosomal storage disorder;
  • metabolic disease

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.