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Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency
Overview
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Citations
Cited by
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Xu, B., Ionita-Laza, I., Roos, J. L., Boone, B., Woodrick, S., Sun, Y., Levy, S., Gogos, J. A., & Karayiorgou, M. (2012) · Nature Genetics · doi:10.1038/ng.2446 · Cited by 442
Separating host and microbiome contributions to drug pharmacokinetics and toxicity
Zimmermann, M., Zimmermann-Kogadeeva, M., Wegmann, R., & Goodman, A. L. (2019) · Science · doi:10.1126/science.aat9931 · Cited by 423
Pharmacogenetics, Drug-Metabolizing Enzymes, and Clinical Practice
Gardiner, S. J., & Begg, E. J. (2006) · Pharmacological Reviews · doi:10.1124/pr.58.3.6 · Cited by 406
Rosmarin, D., Palles, C., Church, D., Domingo, E., Jones, A., Johnstone, E., Wang, H., Love, S., Julier, P., Scudder, C., et al. (2014) · Journal of Clinical Oncology · doi:10.1200/jco.2013.51.1857 · Cited by 256
Disruption at the PTCHD1 Locus on Xp22.11 in Autism Spectrum Disorder and Intellectual Disability
Noor, A., Whibley, A., Marshall, C. R., Gianakopoulos, P. J., Piton, A., Carson, A. R., Orlic-Milacic, M., Lionel, A. C., Sato, D., Pinto, D., et al. (2010) · Science Translational Medicine · doi:10.1126/scitranslmed.3001267 · Cited by 193
Metadata
- Authors
- Van Kuilenburg, A. B. P., Vreken, P., Abeling, N. G. G. M., Bakker, H. D., Meinsma, R., Van Lenthe, H., De Abreu, R. A., Smeitink, J. A. M., Kayserili, H., Apak, M. Y., Christensen, E., Holopainen, I., Pulkki, K., Riva, D., Botteon, G., Holme, E., Tulinius, M., Kleijer, W. J., Beemer, F. A., Duran, M., Niezen-Koning, K. E., Smit, G. P. A., Jakobs, C., Smit, L. M. E., Moog, U., Spaapen, L. J. M., & Van Gennip, A. H.
- Venue
- Human Genetics
- Published
- 1999-02-03
- Volume
- 104
- Issue
- 1
- Pages
- 1-9
- ISSN
- 0018-7348 (ISSN-L)
- 0340-6717
- OpenAlex
- W2115435364
- Cited by
- 282
- References
- 0
- FWCI
- 8.70
- Type
- journal article
- Language
- en
- Open access
- closed
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.
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How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. https://app.cochat.ai/papers/10.1007/pl00008711
- The paper
- Van Kuilenburg, A. B. P., Vreken, P., Abeling, N. G. G. M., Bakker, H. D., Meinsma, R., Van Lenthe, H., De Abreu, R. A., Smeitink, J. A. M., Kayserili, H., Apak, M. Y., Christensen, E., Holopainen, I., Pulkki, K., Riva, D., Botteon, G., Holme, E., Tulinius, M., Kleijer, W. J., Beemer, F. A., . . . Van Gennip, A. H. (1999). Genotype and phenotype in patients with dihydropyrimidine dehydrogenase deficiency. Human Genetics. https://doi.org/10.1007/pl00008711
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.