Neonatal carnitine palmitoyltransferase deficiency: a case with a muscular presentation

Prog Clin Biol Res. 1992:375:309-15.

Authors

J M Land¹, S Mistry, W Squier, P Hope, M Orford, E D Saggerson

Affiliation

¹ Department of Clinical Biochemistry, John Radcliffe Hospital, Oxford, U.K.

PMID: 1438376

No abstract available

Publication types

Case Reports

MeSH terms

Carnitine O-Palmitoyltransferase / deficiency*
Female
Humans
Infant, Newborn
Metabolism, Inborn Errors / enzymology*
Mitochondria, Muscle / enzymology
Muscular Diseases / enzymology*
Muscular Diseases / pathology

Substances

Carnitine O-Palmitoyltransferase