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
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
Hypoglycemia is not a defining feature of metabolic crisis in mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: Further evidence of specific biochemical markers which may aid diagnosis.
Conlon TA et al.
Jimd Reports, 2020
Severe clinical manifestation of mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency associated with two novel mutations: a case report.
Liu H et al.
Bmc Pediatrics, 2019
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
Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency: urinary organic acid profiles and expanded spectrum of mutations.
Pitt JJ et al.
Journal of Inherited Metabolic Disease, 2015
Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.
Aledo R et al.
Journal of Inherited Metabolic Disease, 2006
The diagnosis of mitochondrial HMG-CoA synthase deficiency.
Zschocke J et al.
The Journal of Pediatrics, 2002
Mitochondrial HMG-CoA Synthase Deficiency: A Cyclic Vomiting Mimic Without Reliable Biochemical Markers.
Niehaus AD et al.
Journal of Investigative Medicine High Impact Case Reports, 0
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