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
HMG-CoA Synthase-2 Deficiency: Neonatal Hyperammonemic Coma and Abnormal Metabolic Screening Resembling Maple Syrup Urine Disease.
Vaseenon H et al.
Jimd Reports, 2025
Mitochondrial HMG-CoA Synthase Deficiency in Vietnamese Patients.
Nguyen KN et al.
International Journal of Molecular Sciences, 2025
Critical sample collection delayed? Urine organic acid analysis can still save the day! A new case of HMG-CoA synthase deficiency.
Williams M et al.
Molecular Genetics and Metabolism Reports, 2024
Monogenic Forms of DSD: An Update.
McElreavey K et al.
Hormone Research in Paediatrics, 2023
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
Expanding phenotypic and mutational spectra of mitochondrial HMG-CoA synthase deficiency.
Rojnueangnit K et al.
European Journal of Medical Genetics, 2020
The gene encoding the ketogenic enzyme HMGCS2 displays a unique expression during gonad development in mice.
Bagheri-Fam S et al.
Plos One, 2020
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