• 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor
• A compound heterozygote case of glutaric aciduria type II in a patient carrying a novel candidate variant in ETFDH gene: A case report and literature review on compound heterozygote cases
• A new finding in glutaric acidemia type II: dental anomalies
• A novel missense variant in the L2HGDH gene in a cat with L-2-hydroxyglutaric aciduria and multicystic cerebral lesions
• A Rare Contiguous Gene Deletion Leading to Trichothiodystrophy Type 4 and Glutaric Aciduria Type 3
• Caregiver burden, and parents' perception of disease severity determine health-related quality of life in paediatric patients with intoxication-type inborn errors of metabolism
• Case report: A novel c.1842_1845dup mutation of <em>ETFDH</em> in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
• Characterization and structure of the human lysine-2-oxoglutarate reductase domain, a novel therapeutic target for treatment of glutaric aciduria type 1
• Clinical features and ETFDH mutations of children with late-onset glutaric aciduria type II: a report of two cases
• Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review
• DeepDN_iGlu: prediction of lysine glutarylation sites based on attention residual learning method and DenseNet
• Detection of IEMs by Mass Spectrometry Techniques in High-Risk Children: A Pilot Study
• Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
• Glutaric aciduria type 2, late onset type in Thai siblings with myopathy
• Long-term anthropometric development of individuals with inherited metabolic diseases identified by newborn screening
• Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
• Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia
• Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle
• Oxidation of the FAD cofactor to the 8-formyl-derivative in human electron-transferring flavoprotein
• Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data
• Separation and quantification of the urinary enantiomers of 2-hydroxyglutaric acid by capillary electrophoresis with capacitively coupled contactless conductivity detection: Application to the diagnosis of D- and L-2-hydroxyglutaric aciduria
• The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?