Primary carnitine deficiency due to a failure of carnitine transport in kidney, muscle, and fibroblasts

N Engl J Med. 1988 Nov 17;319(20):1331-6. doi: 10.1056/NEJM198811173192006.

Authors

W R Treem¹, C A Stanley, D N Finegold, D E Hale, P M Coates

Affiliation

¹ Department of Pediatrics, University of Connecticut School of Medicine, Hartford Hospital.

PMID: 3185635
DOI: 10.1056/NEJM198811173192006

No abstract available

Publication types

Case Reports
Research Support, U.S. Gov't, P.H.S.

MeSH terms

Biological Transport
Carnitine / deficiency*
Carnitine / pharmacokinetics
Cells, Cultured
Female
Fibroblasts / metabolism
Humans
Infant
Kidney / metabolism*
Liver / metabolism
Muscles / metabolism*

Substances

Carnitine

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