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Aspartylglucosaminuria in northern Norway: a molecular and genealogical study.

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....

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Détails bibliographiques
Auteurs principaux: Tollersrud, O K, Nilssen, O, Tranebjaerg, L, Borud, O
Format: Artigo
Langue:Inglês
Publié: 1994
Sujets:
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC1049865/
https://ncbi.nlm.nih.gov/pubmed/8064811
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