Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

• Published in: Journal of Medical Genetics
• Main Authors: Tollersrud, O K, Nilssen, O, Tranebjaerg, L, Borud, O
• Format: Text
• Language: English
• Published: BMJ Publishing Group Ltd 1994
• Subjects: Research Article; Norway; Tornio; Northern Finland; Northern Norway
• Online Access: http://jmg.bmj.com/cgi/content/short/31/5/360; https://doi.org/10.1136/jmg.31.5.360

Aspartylglucosaminuria (AGU, McKusick 208400) is an autosomal recessive lysosomal storage disorder. Ninety percent of all patients are from Finland and only sporadic cases have been reported from elsewhere. In northern Norway, however, nine patients from seven families have been diagnosed with AGU....