The DOI matches its Crossref record.
Primary Carnitine Deficiency Due to a Failure of Carnitine Transport in Kidney, Muscle, and Fibroblasts
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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Citations
Cited by
Service, F. J. (1995) · New England Journal of Medicine · doi:10.1056/nejm199504273321707 · Cited by 503
Stephens, F. B., Constantin‐Teodosiu, D., & Greenhaff, P. L. (2007) · The Journal of Physiology · doi:10.1113/jphysiol.2006.125799 · Cited by 396
CARNITINE METABOLISM AND ITS REGULATION IN MICROORGANISMS AND MAMMALS
Rebouche, C. J., & Seim, H. (1998) · Annual Review of Nutrition · doi:10.1146/annurev.nutr.18.1.39 · Cited by 362
Carnitine transport: Pathophysiology and metabolism of known molecular defects
Tein, I. (2003) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1024481016187 · Cited by 140
Classification of hypoglycemic disorders.
Service, F. J. (1999) · Endocrinology and Metabolism Clinics of North America · doi:10.1016/s0889-8529(05)70085-2 · Cited by 92
Wächter, S., Vogt, M., Kreis, R., Boesch, C., Bigler, P., Hoppeler, H., & Krähenbühl, S. (2002) · Clinica Chimica Acta · doi:10.1016/s0009-8981(01)00804-x · Cited by 77
Renal adaptation to dietary carnitine in humans
Rebouche, C., Lombard, K., & Chenard, C. (1993) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/58.5.660 · Cited by 68
Nutritional Considerations for the Vegan Athlete
West, S., Monteyne, A. J., van der Heijden, I., Stephens, F. B., & Wall, B. T. (2023) · Advances in Nutrition · doi:10.1016/j.advnut.2023.04.012 · Cited by 42
Huang, W., Shaikh, S. N., Ganapathy, M. E., Hopfer, U., Leibach, F. H., Carter, A. L., & Ganapathy, V. (1999) · Biochemical Pharmacology · doi:10.1016/s0006-2952(99)00219-1 · Cited by 22
Metadata
- Authors
- Treem, W. R., Stanley, C. A., Finegold, D. N., Hale, D. E., & Coates, P. M.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- 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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Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
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.
