Associated Papers
Mitochondrial 3-hydroxy-3-methylglutaryl-coenzyme A synthase deficiency: From metabolism to clinical implications.
Grünert SC et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025
Ligand-Enzyme Interaction Modeling of Missense Variants Implicated in Mitochondrial HMG-CoA Synthase Deficiency.
Arnedo M et al.
International Journal of Molecular Sciences, 2025
Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.
Nguyen KN et al.
International Journal of Molecular Sciences, 2025
Spatial architectures of somatic mutations in normal prostate, benign prostatic hyperplasia and coexisting prostate cancer.
Chae J et al.
Experimental & Molecular Medicine, 2024
38172600 (PubMed )
Supplement: 12276_2023_1140_MOESM7_ESM.xls › ST7
Clinical, Biochemical, Molecular, and Outcome Features of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase Deficiency in 10 Chinese Patients.
Wu S et al.
Frontiers in Genetics, 2021
35308163 (PubMed )
Supplement: Table1.xls › Supplement_materials
A Japanese case of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency who presented with severe metabolic acidosis and fatty liver without hypoglycemia.
Lee T et al.
Jimd Reports, 2019
Human Mitochondrial HMG-CoA Synthase Deficiency: Role of Enzyme Dimerization Surface and Characterization of Three New Patients.
Puisac B et al.
International Journal of Molecular Sciences, 2018
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