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Last Updated: 10/31/2025
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Found 271 publications
Genetically Confirmed Case of Aspartylglycosaminuria (AGU).
Journal: Indian journal of pediatrics
Published: March 30, 2024
A 37-Year-Old Man With Intellectual Disability Discovered to Have Aspartylglucosaminuria: Implications for the Diagnosis of Genetic Causes.
Journal: Neurology. Genetics
Published: November 29, 2023
A new horizon in the phosphorylated sites of AGA: the structural impact of C163S mutation in aspartylglucosaminuria through molecular dynamics simulation.
Journal: Journal of biomolecular structure & dynamics
Published: June 19, 2023
Validation of Aspartylglucosaminidase Activity Assay for Human Serum Samples: Establishment of a Biomarker for Diagnostics and Clinical Studies.
Journal: International journal of molecular sciences
Published: February 15, 2023
Analysis of genetic variant in a child with Aspartylglucosaminuria
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: December 30, 2022
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Journal: Journal of inherited metabolic disease
Published: November 16, 2022
Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.
Journal: AJNR. American journal of neuroradiology
Published: March 23, 2022
A cross-sectional natural history study of aspartylglucosaminuria.
Journal: JIMD reports
Published: January 21, 2022
Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?
Journal: BMJ neurology open
Published: May 03, 2021
Last Updated: 10/31/2025