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Last Updated: 01/07/2026
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Found 228 publications
Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria.
Journal: BMJ case reports
Published: October 29, 2025
Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: August 05, 2025
Subdural Hematoma in an Infant with Glutaric Aciduria Type 1: A Case Report on Conservative Management.
Journal: Acta medica portuguesa
Published: March 09, 2025
Glutaric aciduria type 1 - a rare treatable neurometabolic disorder of lysine metabolism
Journal: MMW Fortschritte der Medizin
Published: February 19, 2025
Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia.
Journal: Brain & development
Published: January 20, 2025
Therapeutic AASS inhibition by AAV-miRNA rescues glutaric aciduria type I severe phenotype in mice.
Journal: Molecular therapy : the journal of the American Society of Gene Therapy
Published: January 08, 2025
Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.
Journal: Journal of neurology
Published: December 20, 2024
Brain morphometric analysis in patients with glutaric aciduria type 1.
Journal: Molecular genetics and metabolism
Published: October 15, 2024
Glutaric aciduria type 1: Insights into diagnosis and neurogenetic outcomes.
Journal: European journal of pediatrics
Published: October 01, 2024
Use of the Novel Site-Directed Enzyme Enhancement Therapy (SEE-Tx) Drug Discovery Platform to Identify Pharmacological Chaperones for Glutaric Acidemia Type 1.
Journal: Journal of medicinal chemistry
Published: September 23, 2024
Teaching NeuroImage: An 11-Month-Old Girl With Glutaric Acidemia Type 1.
Journal: Neurology
Published: September 16, 2024
Last Updated: 01/07/2026