Refining the diagnosis of mitochondrial HMG-CoA synthase deficiency.

Aledo, R; Mir, C; Dalton, R N; Turner, C; Pié, J; Hegardt, F G; Casals, N; Champion, M P

Aledo, R; Mir, C; Dalton, R N; Turner, C; Pié, J; Hegardt, F G; Casals, N; Champion, M P.

Affiliation

Aledo R; Unit of Biochemistry and Molecular Biology, School of Health Sciences, International University of Catalonia, Spain.

J Inherit Metab Dis ; 29(1): 207-11, 2006 Feb.

Article in En | MEDLINE | ID: mdl-16601895

Subject(s)

Hydroxymethylglutaryl-CoA Synthase/deficiency; Metabolism, Inborn Errors/diagnosis; Mitochondrial Diseases/diagnosis; Carnitine/analogs & derivatives; Carnitine/blood; Carnitine/pharmacology; DNA Mutational Analysis; Genotype; Heterozygote; Humans; Infant; Male; Mutation

Search on Google

Add to My VHL

XML

PubMed Links

Collection: 01-internacional Database: MEDLINE Main subject: Mitochondrial Diseases / Hydroxymethylglutaryl-CoA Synthase / Metabolism, Inborn Errors Type of study: Diagnostic_studies Limits: Humans / Infant / Male Language: En Journal: J Inherit Metab Dis Year: 2006 Document type: Article Affiliation country: Spain Country of publication: United States

Search on Google

Add to My VHL

XML

PubMed Links