Associated Papers
3-Hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: case report of a child with rare HMGCL gene variants.
Bjelica M et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025
Coupled brain and urine spectroscopy - in vivo metabolomic characterization of HMG-CoA lyase deficiency in 5 patients.
Roland D et al.
Molecular Genetics and Metabolism, 2017
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S et al.
Human Mutation, 2009
3-Hydroxy-3-methylglutaryl coenzyme a lyase deficiency with reversible white matter changes after treatment.
Zafeiriou DI et al.
Pediatric Neurology, 2007
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