• 2-Methylglutaconic acid as a biomarker in routine urine organic acids leading to the diagnosis of glutaric acidemia type I in a low excretor
• Analysis of a second-tier test panel in dried blood spot samples using liquid chromatography-tandem mass spectrometry in Catalonia's newborn screening programme
• Biochemical and molecular features of chinese patients with glutaric acidemia type 1 from Fujian Province, southeastern China
• Breastfeeding and Inborn Errors of Amino Acid and Protein Metabolism: A Spreadsheet to Calculate Optimal Intake of Human Milk and Disease-Specific Formulas
• Cardiogenic shock and asphyxial cardiac arrest due to glutaric aciduria type II
• Case report: A novel c.1842_1845dup mutation of <em>ETFDH</em> in two Chinese siblings with multiple acyl-CoA dehydrogenase deficiency
• Cerebral White Matter Alterations Associated With Oligodendrocyte Vulnerability in Organic Acidurias: Insights in Glutaric Aciduria Type I
• Characterization, Structure, and Inhibition of the Human Succinyl-CoA:glutarate-CoA Transferase, a Putative Genetic Modifier of Glutaric Aciduria Type 1
• Clinico-Biochemical Spectrum of Pakistani Patients with Glutaric Aciduria Type 1 (GA1): Experience from a Specialised Biochemical Genetics Laboratory in Pakistan
• Compilation of Genotype and Phenotype Data in <em>GCDH</em>-LOVD for Variant Classification and Further Application
• Comprehensive metabolomics analysis reveals novel biomarkers and pathways in falsely suspected glutaric aciduria Type-1 newborns
• Deep brain stimulation and intrathecal/intraventricular baclofen for glutaric aciduria type 1: A scoping review, individual patient data analysis, and clinical trials review
• Evaluation of the first 5 years of a glutaric aciduria type I neonatal screening programme in Asturias
• Exploring genotype-phenotype correlations in glutaric aciduria type 1
• Fatal cervical myelopathy in a child with glutaric aciduria type 1
• Generation of an induced pluripotent stem cell line carrying a biallelic deletion (SCTCi019-A) in GCDH using CRISPR/Cas9
• Generation of hiPSC lines from four glutaric aciduria type I (GA1) patients carrying pathogenic biallelic variants in GCDH
• Glutaric aciduria and L-2-hydroxyglutaric aciduria: Clinical and molecular findings of 35 patients from Turkey
• Glutaric Aciduria Type 1
• Glutaric Aciduria Type 1: Comparison between Diffusional Kurtosis Imaging and Conventional MR Imaging
• Glutaryl-CoA Dehydrogenase Misfolding in Glutaric Acidemia Type 1
• How guideline development has informed clinical research for organic acidurias (et vice versa)
• Is it time to start to consider treating the liver in glutaric aciduria type 1?
• Maternal Inborn Errors of Metabolism Detected in Expanded Newborn Metabolic Screening
• Metabolic patterns in brain 18F-fluorodeoxyglucose PET relate to aetiology in paediatric dystonia
• Modeling Glutaric Aciduria Type I in human neuroblastoma cells recapitulates neuronal damage that can be rescued by gene replacement
• Morphological evidence of the protective effects of a synthetic chalcone against the striatal myelin damage induced by glutaric acid
• Organic Aciduria Disorders in Pregnancy: An Overview of Metabolic Considerations
• Phenotypic prediction in glutaric aciduria type 1 combining in silico and in vitro modeling with real-world data
• Rescue of glutaric aciduria type I in mice by liver-directed therapies
• The Challenge of Severe Acute Malnutrition in Inborn Errors of Metabolism: Does Medical Food Alone Suffice?
• Thymine Hyperexcretion in a Patient with Abnormal Newborn Screen for Glutaric Aciduria Type I
• Two novel compound heterozygous variants of the GCDH gene in two Chinese families with glutaric acidaemia type I identified by high-throughput sequencing and a literature review
• Update current understanding of neurometabolic disorders related to lysine metabolism
• Validation of a targeted metabolomics panel for improved second-tier newborn screening