The DOI matches its Crossref record; 14 of the 14 references it cites were found in a registry or an index.
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
Abstract
Muscle carnitine palmityltransferase activity, measured by three different methods, was very low (0 to 20 percent of controls) in a patient with a familial syndrome of recurrent myoglobinuria. Long-chain fatty acyl CoA synthetase activity was normal; acetylcarnitine transferase activity was decreased by 40 percent, and carnitine content was 1.7 times higher than the mean control value. Utilization of palmitate by isolated mitochondria was more impaired than utilization of palmitylcarnitine, suggesting a more severe defect of carnitine palmityltransferase I than transferase II. Thus, myoglobinuria may be due to a genetic defect of lipid metabolism in skeletal muscle.
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Cites
PROTEIN MEASUREMENT WITH THE FOLIN PHENOL REAGENT
Lowry, O., Rosebrough, N., Farr, A. L., & Randall, R. (1951) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)52451-6 · Cited by 317,331
Carnitine Deficiency of Human Skeletal Muscle with Associated Lipid Storage Myopathy: A New Syndrome
Engel, A. G., & Angelini, C. (1973) · Science · doi:10.1126/science.179.4076.899 · Cited by 512
Hoppel, C. L., & Tomec, R. J. (1972) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)45682-2 · Cited by 222
Properties of Partially Purified Carnitine Acetyltransferase
Fritz, I. B., Schultz, S. K., & Srere, P. A. (1963) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)68001-4 · Cited by 220
Palmityl-coa:carnitine palmityltransferase
Norum, K. R. (1964) · Biochimica et Biophysica Acta (BBA) - Specialized Section on Enzymological Subjects · doi:10.1016/0926-6569(64)90103-8 · Cited by 202
Long Chain Fatty Acid Activation in Subcellular Preparations from Rat Liver
Pande, S. V., & Mead, J. F. (1968) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)99300-2 · Cited by 199
The Distribution of Carnitine, Acetylcarnitine, and Carnitine Acetyltransferase in Rat Tissues
Marquis, N. R., & Fritz, I. B. (1965) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)97445-4 · Cited by 195
Biochemical studies of skeletal muscle mitochondria
Makinen, M. W., & Lee, C.-P. (1968) · Archives of Biochemistry and Biophysics · doi:10.1016/0003-9861(68)90561-4 · Cited by 193
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Cited by
Carnitine—metabolism and functions
Bremer, J. (1983) · Physiological Reviews · doi:10.1152/physrev.1983.63.4.1420 · Cited by 1,666
The Mitochondrial Carnitine Palmitoyltransferase System — From Concept to Molecular Analysis
McGarry, J. D., & Brown, N. F. (1997) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1997.00001.x · Cited by 1,616
A general introduction to the biochemistry of mitochondrial fatty acid β‐oxidation
Houten, S. M., & Wanders, R. J. A. (2010) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-010-9061-2 · Cited by 1,020
Defective hepatic mitochondrial respiratory chain in patients with nonalcoholic steatohepatitis.
Pérez-Carreras, M., Del Hoyo, P., Martín, M. A., Rubio, J. C., Martín, A., Castellano, G., Colina, F., Arenas, J., & Solis-Herruzo, J. A. (2003) · Hepatology · doi:10.1002/hep.1840380426 · Cited by 734
DiMauro, S., Bonilla, E., Zeviani, M., Nakagawa, M., & DeVivo, D. C. (1985) · Annals of Neurology · doi:10.1002/ana.410170602 · Cited by 688
Self-citation
Metadata
- Authors
- DiMauro, S., & DiMauro, P. M. M.
- Venue
- Science
- Published
- 1973-11-30
- Volume
- 182
- Issue
- 4115
- Pages
- 929-931
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2030802624
- Cited by
- 477
- References
- 14
- FWCI
- 5.76
- Type
- journal article
- 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.
