Glutaric Acidemia Type 1 Latest Advances

Primary hypoparathyroidism as a seizure trigger in type 1 glutaric aciduria.

Journal: BMJ case reports

Published: October 29, 2025

Peripheral Neuropathy Expands the Neurological Phenotype in Glutaric Aciduria Type 1.

Journal: Journal of inherited metabolic disease

Published: October 13, 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

Glutaric aciduria type-1 in a teenager with nutritional vitamin B12 deficiency: coexistence of two treatable conditions.

Journal: BMJ case reports

Published: April 25, 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

Neurocognitive characterization and academic impact in pediatric patients belonging to the national registry of GA-1.

Journal: Orphanet journal of rare diseases

Published: November 15, 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