Aspartylglucosaminuria Latest Advances
Find the Latest Research About Aspartylglucosaminuria
Last Updated: 09/26/2026
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Found 276 publications
Disruptions in speech, language and social communication in lysosomal storage diseases.
Journal: Neuroscience and biobehavioral reviews
Published: April 27, 2026
Biochemical characterization of aspartylglucosaminidase missense variants of unclear significance reveals different degrees of functional impairment.
Journal: Frontiers in chemistry
Published: April 20, 2026
Revisiting Enzyme Replacement Therapy for Aspartylglucosaminuria: Truncated Phosphotransferase Enhances Mannose-6-Phosphorylation and Cellular Uptake of Aspartylglucosaminidase.
Journal: Journal of inherited metabolic disease
Published: February 25, 2026
Glycoproteinoses: Clinical features, therapeutic landscape, and regulatory pathways in rare lysosomal disorders.
Journal: Molecular genetics and metabolism
Published: February 06, 2026
Congenital Dermal Melanocytosis Associated With Aspartylglucosaminuria: Expanding the Dermatological Phenotype of a Rare Oligosaccharidosis.
Journal: The Australasian journal of dermatology
Published: December 02, 2025
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
Last Updated: 09/26/2026