Associated Papers
3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency: one disease - many faces.
Grünert SC et al.
Orphanet Journal of Rare Diseases, 2020
32059735 (PubMed )
Supplement: 13023_2020_1319_MOESM1_ESM.docx
Management and long-term evolution of a patient with 3-hydroxy-3-methylglutaryl-coenzyme A lyase deficiency.
Muñoz-Bonet JI et al.
Italian Journal of Pediatrics, 2017
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9A
Ten novel HMGCL mutations in 24 patients of different origin with 3-hydroxy-3-methyl-glutaric aciduria.
Menao S et al.
Human Mutation, 2009
Molecular genetics of HMG-CoA lyase deficiency.
Pié J et al.
Molecular Genetics and Metabolism, 2007
A single-residue mutation, G203E, causes 3-hydroxy-3-methylglutaric aciduria by occluding the substrate channel in the 3D structural model of HMG-CoA lyase.
Mir C et al.
Journal of Inherited Metabolic Disease, 2006
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