Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency. [electronic resource]
Producer: 20190708Description: 441-448 p. digitalISSN:- 1096-7206
- Adolescent
- Adult
- Biomarkers -- blood
- Carnitine O-Palmitoyltransferase -- blood
- Child
- Child, Preschool
- Female
- Follow-Up Studies
- Humans
- Infant
- Male
- Metabolic Flux Analysis
- Metabolism, Inborn Errors -- blood
- Middle Aged
- Muscular Diseases -- blood
- Mutation
- Oxidation-Reduction
- Palmitic Acid -- blood
- Prognosis
- Retrospective Studies
- Young Adult
No physical items for this record
Publication Type: Journal Article
There are no comments on this title.
Log in to your account to post a comment.