The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency
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Citations
Cites
The Metabolic and Molecular Bases of Inherited Disease
Scriver, R. C. (1995) · Medical Entomology and Zoology · Cited by 12,101
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 · cited 1×
“However, in carnitine palmitoyltransferase (CPT II) deficiency, which, like VLCAD deficiency, affects the metabolism of long-chain fatty acids, some correlation between genotype and phenotype has been reported (Taroni et al. 1993; Verderio et al. 1995; Bonnefont et al. 1996; McGarry and Brown 1997).”
BackgroundMolecular basis of base substitution hotspots in Escherichia coli
Coulondre, C., Miller, J. H., Farabaugh, P. J., & Gilbert, W. (1978) · Nature · doi:10.1038/274775a0 · Cited by 1,193
When cells stop making sense: effects of nonsense codons on RNA metabolism in vertebrate cells.
Maquat, L. E. (1995) · Europe PMC (PubMed Central) · Cited by 513
Mitochondrial Fatty-Acid Oxidation Disorders
Kompare, M., & Rizzo, W. B. (2008) · Seminars in Pediatric Neurology · doi:10.1016/j.spen.2008.05.008 · Cited by 429
Paumen, M. B., Ishida, Y., Muramatsu, M., Yamamoto, M., & Honjo, T. (1997) · Journal of Biological Chemistry · doi:10.1074/jbc.272.6.3324 · Cited by 349
Acyl‐CoA dehydrogenases: A mechanistic overview
Ghisla, S., & Thorpe, C. (2004) · European Journal of Biochemistry · doi:10.1046/j.1432-1033.2003.03946.x · Cited by 344
An acyl-coenzyme a dehydrogenase assay utilizing the ferricenium ion
Lehman, T. C., Hale, D. E., Bhala, A., & Thorpe, C. (1990) · Analytical Biochemistry · doi:10.1016/0003-2697(90)90080-s · Cited by 214
Prophylaxis of early ventricular fibrillation by inhibition of acylcarnitine accumulation.
Corr, P. B., Creer, M. H., Yamada, K. A., Saffitz, J. E., & Sobel, B. E. (1989) · Journal of Clinical Investigation · doi:10.1172/jci113978 · Cited by 206
Long-Chain Acyl Coenzyme A Dehydrogenase Deficiency: An Inherited Cause of Nonketotic Hypoglycemia
Hale, D. E., Batshaw, M. L., Coates, P. M., Frerman, F. E., Goodman, S. I., Singh, I., & Stanley, C. A. (1985) · Pediatric Research · doi:10.1203/00006450-198507000-00006 · Cited by 202
Cited by
Warren, J. D., Blumbergs, P. C., & Thompson, P. D. (2002) · Muscle & Nerve · doi:10.1002/mus.10053 · Cited by 431
Disorders of mitochondrial long-chain fatty acid oxidation and the carnitine shuttle
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) · Reviews in Endocrine and Metabolic Disorders · doi:10.1007/s11154-018-9448-1 · Cited by 331
Self-citationDisorders of mitochondrial fatty acyl‐CoA β‐oxidation
Wanders, R. J. A., Vreken, P., den Boer, M. E. J., Wijburg, F. A., Van Gennip, A. H., & IJlst, L. (1999) · Journal of Inherited Metabolic Disease · doi:10.1023/a:1005504223140 · Cited by 257
Self-citationAcyl-CoA Dehydrogenase 9 Is Required for the Biogenesis of Oxidative Phosphorylation Complex I
Nouws, J., Nijtmans, L., Houten, S. M., van den Brand, M., Huynen, M., Venselaar, H., Hoefs, S., Gloerich, J., Kronick, J., Hutchin, T., et al. (2010) · Cell Metabolism · doi:10.1016/j.cmet.2010.08.002 · Cited by 190
Self-citationMilev, M. P., Saint‐Dic, D., Zardoui, K., Klopstock, T., Law, C., Distelmaier, F., & Sacher, M. (2021) · Journal of Inherited Metabolic Disease · doi:10.1002/jimd.12312 · Cited by 53
Metadata
- Authors
- Andresen, B. S., Olpin, S., Poorthuis, B. J. H. M., Scholte, H. R., Vianey-Saban, C., Wanders, R., Ijlst, L., Morris, A., Pourfarzam, M., Bartlett, K., Baumgartner, E. R., deKlerk, J. B. C., Schroeder, L. D., Corydon, T. J., Lund, H., Winter, V., Bross, P., Bolund, L., & Gregersen, N.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 1999-02
- Volume
- 64
- Issue
- 2
- Pages
- 479-494
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2109835425
- Cited by
- 305
- References
- 51
- FWCI
- 7.18
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency. https://app.cochat.ai/papers/10.1086/302261
- The paper
- Andresen, B. S., Olpin, S., Poorthuis, B. J. H. M., Scholte, H. R., Vianey-Saban, C., Wanders, R., Ijlst, L., Morris, A., Pourfarzam, M., Bartlett, K., Baumgartner, E. R., deKlerk, J. B. C., Schroeder, L. D., Corydon, T. J., Lund, H., Winter, V., Bross, P., Bolund, L., & Gregersen, N. (1999). Clear Correlation of Genotype with Disease Phenotype in Very–Long-Chain Acyl-CoA Dehydrogenase Deficiency. The American Journal of Human Genetics. https://doi.org/10.1086/302261
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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.
