The DOI matches its Crossref record; 51 of the 51 references it cites were found in a registry or an index.
Pyridoxine dependent epilepsy and antiquitin 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
Mutation nomenclature extensions and suggestions to describe complex mutations: A discussion
Dunnen, J. T. D., & Antonarakis, S. E. (2000) · Human Mutation · doi:10.1002/(sici)1098-1004(200001)15:1<7::aid-humu4>3.0.co;2-n · Cited by 1,756
Computational Method to Predict Mitochondrially Imported Proteins and their Targeting Sequences
Claros, M. G., & Vincens, P. (1996) · European Journal of Biochemistry · doi:10.1111/j.1432-1033.1996.00779.x · Cited by 1,643
Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism
Hanada, K. (2003) · Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of Lipids · doi:10.1016/s1388-1981(03)00059-3 · Cited by 616
A genomic overview of pyridoxal‐phosphate‐dependent enzymes
Percudani, R., & Peracchi, A. (2003) · EMBO reports · doi:10.1038/sj.embor.embor914 · Cited by 551
Mutations in antiquitin in individuals with pyridoxine-dependent seizures
Mills, P. B., Struys, E., Jakobs, C., Plecko, B., Baxter, P., Baumgartner, M., Willemsen, M. A. A. P., Omran, H., Tacke, U., Uhlenberg, B., et al. (2006) · Nature Medicine · doi:10.1038/nm1366 · Cited by 547
Self-citationThe Family of Glycogen Phosphorylases: Structure and Functio
Newgard, C. B., Hwang, P. K., & Fletterick, R. J. (1989) · Critical Reviews in Biochemistry and Molecular Biology · doi:10.3109/10409238909082552 · Cited by 397
Analysis and update of the human aldehyde dehydrogenase (ALDH) gene family
Vasiliou, V., & Nebert, D. W. (2005) · Human Genomics · doi:10.1186/1479-7364-2-2-138 · Cited by 396
Krawitz, P. M., Schweiger, M. R., Rödelsperger, C., Marcelis, C., Kölsch, U., Meisel, C., Stephani, F., Kinoshita, T., Murakami, Y., Bauer, S., et al. (2010) · Nature Genetics · doi:10.1038/ng.653 · Cited by 299
B6‐responsive disorders: A model of vitamin dependency
Clayton, P. T. (2006) · Journal of Inherited Metabolic Disease · doi:10.1007/s10545-005-0243-2 · Cited by 290
Self-citation
Cited by
Zuberi, S. M., Wirrell, E., Yozawitz, E., Wilmshurst, J. M., Specchio, N., Riney, K., Pressler, R., Auvin, S., Samia, P., Hirsch, E., et al. (2022) · Epilepsia · doi:10.1111/epi.17239 · Cited by 934
Vitamin B6 and Its Role in Cell Metabolism and Physiology
Parra, M., Stahl, S., & Hellmann, H. (2018) · Cells · doi:10.3390/cells7070084 · Cited by 532
The International League Against Epilepsy Consortium on Complex Epilepsies, Abou-Khalil, B., Auce, P., Avbersek, A., Bahlo, M., Balding, D. J., Bast, T., Baum, L., Becker, A. J., Becker, F., et al. (2018) · Nature Communications · doi:10.1038/s41467-018-07524-z · Cited by 482
Clelland, C. L., Moss, S., & Clelland, J. D. (2024) · Exploration of Digital Health Technologies · doi:10.37349/edht.2024.00006 · Cited by 10
(2023) · doi:10.1371/journal.pgen.1010972 · Cited by 6
Metadata
- Authors
- Stockler, S., Plecko, B., Gospe, S. M., Coulter-Mackie, M., Connolly, M., van Karnebeek, C., Mercimek-Mahmutoglu, S., Hartmann, H., Scharer, G., Struijs, E., Tein, I., Jakobs, C., Clayton, P., & Van Hove, J. L. K.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2011-09
- Volume
- 104
- Issue
- 1-2
- Pages
- 48-60
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2156672390
- Cited by
- 305
- References
- 51
- FWCI
- 11.06
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Pyridoxine dependent epilepsy and antiquitin deficiency. https://app.cochat.ai/papers/10.1016/j.ymgme.2011.05.014
- The paper
- Stockler, S., Plecko, B., Gospe, S. M., Coulter-Mackie, M., Connolly, M., van Karnebeek, C., Mercimek-Mahmutoglu, S., Hartmann, H., Scharer, G., Struijs, E., Tein, I., Jakobs, C., Clayton, P., & Van Hove, J. L. K. (2011). Pyridoxine dependent epilepsy and antiquitin deficiency. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2011.05.014
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.
