Measurement of plasma very long-chain fatty acids as a preliminary screening procedure for the diagnosis of peroxisomal disorders

J Inherit Metab Dis. 1994;17(3):323-6. doi: 10.1007/BF00711819.

Authors

S J Steinberg¹, A H Fensom, N R Dalton, P A Toseland, C R Kennedy, A P Mowat

Affiliation

¹ Paediatric Research Unit, UMDS, London, UK.

PMID: 7807943
DOI: 10.1007/BF00711819

No abstract available

Publication types

Case Reports
Research Support, Non-U.S. Gov't

MeSH terms

Adolescent
Adrenoleukodystrophy / blood
Adrenoleukodystrophy / diagnosis
Adrenoleukodystrophy / genetics
Child
Chromatography, Gas
Fatty Acids / analysis*
Fatty Acids / blood
Fibroblasts / metabolism
Genetic Testing
Humans
Lipid Metabolism, Inborn Errors / blood
Lipid Metabolism, Inborn Errors / diagnosis*
Lipid Metabolism, Inborn Errors / genetics
Male
Microbodies / metabolism*
Skin / metabolism

Substances

Fatty Acids