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Last Updated: 01/07/2026
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Found 86 publications
Perioperative Anesthetic Considerations in HMG-CoA Lyase Deficiency: Case Report and Literature Review.
Journal: Journal of clinical medicine
Published: September 19, 2025
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.
Journal: Turkish archives of pediatrics
Published: September 17, 2025
Timely intervention in HMG-CoA Lyase deficiency: The role of newborn screening, metabolic management, and genomic sequencing.
Journal: Molecular genetics and metabolism reports
Published: July 23, 2025
Metabolic origin and significance of 3-methylglutaryl CoA.
Journal: Clinica chimica acta; international journal of clinical chemistry
Published: March 20, 2025
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.
Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: March 18, 2025
Evaluation of Newborn Screening for Diseases Using C5-OH as a Marker: Systematic Review of the Literature and Evaluation of 17 Years of C5-OH Screening in the Netherlands.
Journal: Journal of inherited metabolic disease
Published: March 14, 2025
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.
Journal: Journal of investigative medicine high impact case reports
Published: August 15, 2024
Factors Affecting Non-Enzymatic Protein Acylation by trans-3-Methylglutaconyl Coenzyme A.
Journal: Metabolites
Published: June 18, 2024
Clinical and genetic analysis of two children with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency
Journal: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
Published: February 04, 2024
Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.
Journal: International journal of neonatal screening
Published: December 23, 2023
How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report.
Journal: Endocrinologia, diabetes y nutricion
Published: June 07, 2023
Metabolite-disease interaction prediction based on logistic matrix factorization and local neighborhood constraints.
Journal: Frontiers in psychiatry
Published: February 10, 2023
Last Updated: 01/07/2026