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Article

Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.

Human mutation - 1 Jan 1992

Ikonen E, Peltonen L

Abstract excerpt

This article provides a review of the mutations reported so far in the lysosomal storage disease aspartylglucosaminuria (AGU). The clinical symptoms, biochemical findings, and diagnostic possibilities of the disease are introduced. The prevalence and biological consequences of the found mutations are then described, as well as the availability of a new rapid DNA test suitable for carrier screening. This test will...

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Identifiers

PMID: 1301945
DOI: 10.1002/humu.1380010503

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Mutations causing aspartylglucosaminuria (AGU): a lysosomal accumulation disease.PMID 1301945Read ↗

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