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Last Updated: 01/07/2026

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Found 272 publications

Congenital Dermal Melanocytosis Associated With Aspartylglucosaminuria: Expanding the Dermatological Phenotype of a Rare Oligosaccharidosis.

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).

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.

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.

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.

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

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.

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

Detection of Aspartylglucosaminuria Patients from Magnetic Resonance Images by a Machine-Learning-Based Approach.

Detection of Aspartylglucosaminuria Patients from Magnetic Resonance Images by a Machine-Learning-Based Approach.

Journal: Brain sciences
Published: September 18, 2022

Topological Structural Brain Connectivity Alterations in Aspartylglucosaminuria: A Case-Control Study.

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.

A cross-sectional natural history study of aspartylglucosaminuria.

Journal: JIMD reports
Published: January 21, 2022

Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.

Towards Splicing Therapy for Lysosomal Storage Disorders: Methylxanthines and Luteolin Ameliorate Splicing Defects in Aspartylglucosaminuria and Classic Late Infantile Neuronal Ceroid Lipofuscinosis.

Journal: Cells
Published: May 13, 2021

Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?

Carlos II of Spain, 'The Bewitched': cursed by aspartylglucosaminuria?

Journal: BMJ neurology open
Published: May 03, 2021
Showing 1-12 of 272

Last Updated: 01/07/2026