https://pubmed.ncbi.nlm.nih.gov/11309371/
Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations
A deficiency of functional aspartylglucosaminidase (AGA) causes a lysosomal storage disease, aspartylglucosaminuria (AGU). The recessively inherited disease is...
molecular pathogenesisdiseasestructuralconsequencesaspartylglucosaminuria