3-Hydroxy-3-Methylglutaryl-CoA Lyase Deficiency Latest Advances

Comparison of Ketogenesis and Ketolysis Defects: A Retrospective Single-Center Study of 30 Patients.

Journal: Turkish archives of pediatrics

Published: September 17, 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

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

Journal: Nutrients

Published: December 04, 2022

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.

Journal: Molecular genetics and metabolism

Published: July 12, 2022

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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.

Metabolic origin and significance of 3-methylglutaryl CoA.

Metabolic origin and significance of 3-methylglutaryl CoA.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.

3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.

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.

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.

Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.

Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.

Factors Affecting Non-Enzymatic Protein Acylation by trans-3-Methylglutaconyl Coenzyme A.

Factors Affecting Non-Enzymatic Protein Acylation by trans-3-Methylglutaconyl Coenzyme A.

Clinical and genetic analysis of two children with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Clinical and genetic analysis of two children with 3-hydroxy-3-methylglutaryl-CoA lyase deficiency

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

Harnessing Next-Generation Sequencing as a Timely and Accurate Second-Tier Screening Test for Newborn Screening of Inborn Errors of Metabolism.

How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report.

How to handle HMG-CoA lyase deficiency and type 1 diabetes? A challenging case report.

Metabolite-disease interaction prediction based on logistic matrix factorization and local neighborhood constraints.

Metabolite-disease interaction prediction based on logistic matrix factorization and local neighborhood constraints.

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

Treatment of HMG-CoA Lyase Deficiency-Longitudinal Data on Clinical and Nutritional Management of 10 Australian Cases.

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.

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.