The DOI matches its Crossref record; 147 of the 147 references it cites were found in a registry or an index.
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
Open accessAbstract
Mitochondrial fatty acid oxidation is an essential pathway for energy production, especially during prolonged fasting and sub-maximal exercise. Long-chain fatty acids are the most abundant fatty acids in the human diet and in body stores, and more than 15 enzymes are involved in long-chain fatty acid oxidation. Pathogenic mutations in genes encoding these enzymes result in a long-chain fatty acid oxidation disorder in which the energy homeostasis is compromised and long-chain acylcarnitines accumulate. Symptoms arise or exacerbate during catabolic situations, such as fasting, illness and (endurance) exercise. The clinical spectrum is very heterogeneous, ranging from hypoketotic hypoglycemia, liver dysfunction, rhabdomyolysis, cardiomyopathy and early demise. With the introduction of several of the long-chain fatty acid oxidation disorders (lcFAOD) in newborn screening panels, also asymptomatic individuals with a lcFAOD are identified. However, despite early diagnosis and dietary therapy, a significant number of patients still develop symptoms emphasizing the need for individualized treatment strategies. This review aims to function as a comprehensive reference for clinical and laboratory findings for clinicians who are confronted with pediatric and adult patients with a possible diagnosis of a lcFAOD.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Myocardial Fatty Acid Metabolism in Health and Disease
Lopaschuk, G. D., Ussher, J. R., Folmes, C. D. L., Jaswal, J. S., & Stanley, W. C. (2010) · Physiological Reviews · doi:10.1152/physrev.00015.2009 · Cited by 2,179
Medium-chain triglycerides: an update
Bach, A., & Babayan, V. (1982) · The American Journal of Clinical Nutrition · doi:10.1093/ajcn/36.5.950 · Cited by 1,151
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
Self-citationCarnitine transport and fatty acid oxidation
Longo, N., Frigeni, M., & Pasquali, M. (2016) · Biochimica et Biophysica Acta (BBA) - Molecular Cell Research · doi:10.1016/j.bbamcr.2016.01.023 · Cited by 996
The Biochemistry and Physiology of Mitochondrial Fatty Acid β-Oxidation and Its Genetic Disorders
Houten, S. M., Violante, S., Ventura, F. V., & Wanders, R. J. A. (2016) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021115-105045 · Cited by 920
Self-citationCarnitine palmitoyltransferases 1 and 2: biochemical, molecular and medical aspects
BONNEFONT, J. (2004) · Molecular Aspects of Medicine · doi:10.1016/j.mam.2004.06.004 · Cited by 637
Disorders of carnitine transport and the carnitine cycle
Longo, N., Amat di San Filippo, C., & Pasquali, M. (2006) · American Journal of Medical Genetics Part C: Seminars in Medical Genetics · doi:10.1002/ajmg.c.30087 · Cited by 543
Nutritional Ketosis Alters Fuel Preference and Thereby Endurance Performance in Athletes
Cox, P. J., Kirk, T., Ashmore, T., Willerton, K., Evans, R., Smith, A., Murray, A. J., Stubbs, B., West, J., McLure, S. W., et al. (2016) · Cell Metabolism · doi:10.1016/j.cmet.2016.07.010 · Cited by 530
Schulze, A., Lindner, M., Kohlmüller, D., Olgemöller, K., Mayatepek, E., & Hoffmann, G. F. (2003) · Pediatrics · doi:10.1542/peds.111.6.1399 · Cited by 519
Muscle Carnitine Palmityltransferase Deficiency and Myoglobinuria
DiMauro, S., & DiMauro, P. M. M. (1973) · Science · doi:10.1126/science.182.4115.929 · Cited by 477
Cited by
CPT1A-mediated Fat Oxidation, Mechanisms, and Therapeutic Potential
Schlaepfer, I. R., & Joshi, M. (2020) · Endocrinology · doi:10.1210/endocr/bqz046 · Cited by 732
Metabolic reprogramming in macrophage responses
Liu, Y., Xu, R., Gu, H., Zhang, E., Qu, J., Cao, W., Huang, X., Yan, H., He, J., & Cai, Z. (2021) · Biomarker Research · doi:10.1186/s40364-020-00251-y · Cited by 641
Energetic Trade-Offs and Hypometabolic States Promote Disease Tolerance
Ganeshan, K., Nikkanen, J., Man, K., Leong, Y. A., Sogawa, Y., Maschek, J. A., Van Ry, T., Chagwedera, D. N., Cox, J. E., & Chawla, A. (2019) · Cell · doi:10.1016/j.cell.2019.01.050 · Cited by 286
The physiological functions of human peroxisomes
Wanders, R. J. A., Baes, M., Ribeiro, D., Ferdinandusse, S., & Waterham, H. R. (2023) · Physiological Reviews · doi:10.1152/physrev.00051.2021 · Cited by 228
Self-citationRole of Carnitine in Non-alcoholic Fatty Liver Disease and Other Related Diseases: An Update
Li, N., & Zhao, H. (2021) · Frontiers in Medicine · doi:10.3389/fmed.2021.689042 · Cited by 79
Metadata
- Authors
- Knottnerus, S. J. G., Bleeker, J. C., Wüst, R. C. I., Ferdinandusse, S., IJlst, L., Wijburg, F. A., Wanders, R. J. A., Visser, G., & Houtkooper, R. H.
- Venue
- Reviews in Endocrine and Metabolic Disorders
- Published
- 2018-03
- Volume
- 19
- Issue
- 1
- Pages
- 93-106
- ISSN
- 1389-9155 (ISSN-L)
- 1573-2606
- OpenAlex
- W2809679140
- Cited by
- 331
- References
- 147
- FWCI
- 14.98
- Type
- journal article
- Language
- en
- Open access
- hybrid
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. https://app.cochat.ai/papers/10.1007/s11154-018-9448-1
- The paper
- Knottnerus, S. J. G., Bleeker, J. C., Wüst, R. C. I., Ferdinandusse, S., IJlst, L., Wijburg, F. A., Wanders, R. J. A., Visser, G., & Houtkooper, R. H. (2018). Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle. Reviews in Endocrine and Metabolic Disorders. https://doi.org/10.1007/s11154-018-9448-1
Data sources
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.
