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Cited by 309

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Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts

Treem, William R., Stanley, Charles A., Finegold, David N., Hale, Daniel E., Coates, Paul M.·1988·New England Journal of Medicine

Abstract

CARNITINE (β-hydroxy-γ-trimethylaminobutyric acid) is an essential cofactor for the oxidation of fatty acids by mitochondria. It serves to carry long-chain fatty acids in the form of their acyl-carnitine esters across the barrier of the inner mitochondrial membrane before β-oxidation. Since 1973,1 a total of 46 patients have been described with evidence of impaired fatty acid oxidation associated with reduced levels of carnitine.2 These patients have been divided into a group with a "systemic carnitine deficiency," which presents in infancy or early childhood with recurrent episodes of coma and hypoglycemia, and a group with a "muscle carnitine deficiency," which presents later . . .

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Metadata

Authors
Treem, W. R., Stanley, C. A., Finegold, D. N., Hale, D. E., & Coates, P. M.
Venue
New England Journal of Medicine
Published
1988-11-17
Volume
319
Issue
20
Pages
1331-1336
ISSN
  • 0028-4793 (ISSN-L)
  • 1533-4406
OpenAlex
W2063367773
Cited by
309
References
0
Type
book review
Language
en
Open access
closed

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CoChat. (2026). Citation check: Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts. https://app.cochat.ai/papers/10.1056/nejm198811173192006
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Treem, W. R., Stanley, C. A., Finegold, D. N., Hale, D. E., & Coates, P. M. (1988). Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts. New England Journal of Medicine. https://doi.org/10.1056/nejm198811173192006

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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).

Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.