Filters

Term Search
You can select from the dropdown list OR enter your own terms to refine the search.

Last Updated: 10/31/2025

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 226 publications

Newborn screening, clinical characteristics and genetic variant analysis of Glutaric acidemia type I in Henan Province

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.

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.

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

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.

Low excretor glutaric acidemia type 1 with transient lesions in the basal ganglia.

Journal: Brain & development
Published: January 20, 2025

Outcomes of deep brain stimulation surgery in the management of dystonia in glutaric aciduria type 1.

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.

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.

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.

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.

Teaching NeuroImage: An 11-Month-Old Girl With Glutaric Acidemia Type 1.

Journal: Neurology
Published: September 16, 2024

Impairment of neuromotor development and cognition associated with histopathological and neurochemical abnormalities in the cerebral cortex and striatum of glutaryl-CoA dehydrogenase deficient mice.

Impairment of neuromotor development and cognition associated with histopathological and neurochemical abnormalities in the cerebral cortex and striatum of glutaryl-CoA dehydrogenase deficient mice.

Journal: Neurochemistry international
Published: September 04, 2024

Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1.

Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1.

Journal: ACS chemical biology
Published: June 25, 2024
Showing 1-12 of 226

Last Updated: 10/31/2025