• 3-Hydroxy-3-Methylglutaric Acid Impairs Redox and Energy Homeostasis, Mitochondrial Dynamics, and Endoplasmic Reticulum-Mitochondria Crosstalk in Rat Brain
• 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces
• 3-Methylglutaric acid in energy metabolism
• A newborn screening approach to diagnose 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• An Atypical Case of Head Tremor and Extensive White Matter in an Adult Female Caused by 3-Hydroxy-3-methylglutaryl-CoA Lyase Deficiency
• Bayesian multiple hypotheses testing in compositional analysis of untargeted metabolomic data
• Cardiac-specific deficiency of 3-hydroxy-3-methylglutaryl coenzyme A lyase in mice causes cardiomyopathy and a distinct pattern of acyl-coenzyme A-related biomarkers
• Clinical and genetic analysis of two children with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
• CNS autoimmunity in children: An unwanted wrinkle in a smooth narrative
• Collaborative evaluation study on 18 candidate diseases for newborn screening in 1.77 million samples
• Diagnosis of inborn errors of metabolism within the expanded newborn screening in the Madrid region
• Elevated C5-hydroxy acylcarnitine in an infant girl as a result of holocarboxylase synthetase deficiency
• First report of type 2 diabetes mellitus in an adult with 3-hydroxy-3-methylglutaryl coenzyme A lyase deficiency
• Further evidence for the involvement of mitochondrial aquaporin-8 in hepatocyte lipid synthesis
• Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism
• HMG-CoA Lyase Deficiency: A Retrospective Study of 62 Saudi Patients
• How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report
• Inborn errors of metabolism and coronavirus disease 2019: Evaluation of the metabolic outcome
• Inborn errors of metabolism associated with 3-methylglutaconic aciduria
• Metabolite-disease interaction prediction based on logistic matrix factorization and local neighborhood constraints
• Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers
• Neurological Sequelae due to Inborn Metabolic Diseases in Pediatric Refugees: Challenges in Treating the Untreated
• Newborn screening for 3-hydroxy-3-methylglutaric aciduria using direct analysis in real-time mass spectrometry
• Prevention by L-carnitine of DNA damage induced by 3-hydroxy-3-methylglutaric and 3-methylglutaric acids and experimental evidence of lipid and DNA damage in patients with 3-hydroxy-3-methylglutaric aciduria
• Severe neuroglycopenic symptoms due to nonketotic hypoglycemia in children with cardio-facio-cutaneous syndrome
• Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases
• Unusual Magnetic Resonance Imaging Findings in 3-Hydroxy-3-Methylglutaryl-Coenzyme A Lyase Deficiency
• Young-Onset Ischemic Colitis: A Condition of Elusive Etiology Frequently Associated With Immune Dysregulation