The DOI matches its Crossref record; 11 of the 11 references it cites were found in a registry or an index.
Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome
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Citations
Cites
Habig, W. H., Pabst, M. J., & Jakoby, W. B. (1974) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)42083-8 · Cited by 18,221
Regulation of the mevalonate pathway
Goldstein, J. L., & Brown, M. S. (1990) · Nature · doi:10.1038/343425a0 · Cited by 5,394
DRENTH, J. P. H., HAAGSMA, C. J., & VAN DER MEER, J. W. M. (1994) · Medicine · doi:10.1097/00005792-199405000-00002 · Cited by 394
HYPERIMMUNOGLOBULINAEMIA D AND PERIODIC FEVER: A NEW SYNDROME
Van Der Meer, J. M., Radl, J., Meyer, C. L. M., Vossen, J., Van Nieuwkoop, J., Lobatto, S., & Van Furth, R. (1984) · The Lancet · doi:10.1016/s0140-6736(84)92505-4 · Cited by 330
Clinical and Biochemical Phenotype in 11 Patients With Mevalonic Aciduria
Hoffmann, G. F., Charpentier, C., Mayatepek, E., Mancini, J., Leichsenring, M., Gibson, K. M., Divry, P., Hrebicek, M., Lehnert, W., Sartor, K., et al. (1993) · Pediatrics · doi:10.1542/peds.91.5.915 · Cited by 289
CHRONIC LOW-LEVEL LEAD EXPOSURE AND MENTAL RETARDATION
Zarkowsky, H., Goldberg, A., & Moore, M. R. (1975) · The Lancet · doi:10.1016/s0140-6736(75)91858-9 · Cited by 221
Mevalonic Aciduria — An Inborn Error of Cholesterol and Nonsterol Isoprene Biosynthesis
Hoffmann, G., Gibson, K. M., Brandt, I. K., Bader, P. I., Wappner, R. S., & Sweetman, L. (1986) · New England Journal of Medicine · doi:10.1056/nejm198606193142504 · Cited by 197
IJlst, L., Wanders, R. J. A., Ushikubo, S., Kamijo, T., & Hashimoto, T. (1994) · Biochimica et Biophysica Acta (BBA) - Lipids and Lipid Metabolism · doi:10.1016/0005-2760(94)90064-7 · Cited by 158
Self-citationSchafer, B. L., Bishop, R. W., Kratunis, V. J., Kalinowski, S. S., Mosley, S. T., Gibson, K. M., & Tanaka, R. D. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42199-0 · Cited by 109
Biardi, L., Sreedhar, A. S., Zokaei, A., Vartak, N. B., Bozeat, R. L., Shackelford, J. E., Keller, G. A., & Krisans, S. K. (1994) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(17)42242-3 · Cited by 89
Cited by
Points of control in inflammation
Nathan, C. (2002) · Nature · doi:10.1038/nature01320 · Cited by 2,738
Caspase Functions in Cell Death and Disease
McIlwain, D. R., Berger, T., & Mak, T. W. (2013) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a008656 · Cited by 2,594
Feldmann, J., Prieur, A.-M., Quartier, P., Berquin, P., Certain, S., Cortis, E., Teillac-Hamel, D., Fischer, A., & Basile, G. D. S. (2002) · The American Journal of Human Genetics · doi:10.1086/341357 · Cited by 743
Aksentijevich, I., Nowak, M., Mallah, M., Chae, J. J., Watford, W. T., Hofmann, S. R., Stein, L., Russo, R., Goldsmith, D., Dent, P., et al. (2002) · Arthritis & Rheumatism · doi:10.1002/art.10688 · Cited by 709
Mevalonate pathway: A review of clinical and therapeutical implications
Buhaescu, I., & Izzedine, H. (2007) · Clinical Biochemistry · doi:10.1016/j.clinbiochem.2007.03.016 · Cited by 620
Metadata
- Authors
- Houten, S. M., Kuis, W., Duran, M., de Koning, T. J., van Royen-Kerkhof, A., Romeijn, G. J., Frenkel, J., Dorland, L., de Barse, M. M. J., Huijbers, W. A. R., Rijkers, G. T., Waterham, H. R., Wanders, R. J. A., & Poll-The, B. T.
- Venue
- Nature Genetics
- Published
- 1999-06
- Volume
- 22
- Issue
- 2
- Pages
- 175-177
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- DOI
- 10.1038/9691
- OpenAlex
- W1596257295
- Cited by
- 520
- References
- 11
- FWCI
- 9.13
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. https://app.cochat.ai/papers/10.1038/9691
- The paper
- Houten, S. M., Kuis, W., Duran, M., de Koning, T. J., van Royen-Kerkhof, A., Romeijn, G. J., Frenkel, J., Dorland, L., de Barse, M. M. J., Huijbers, W. A. R., Rijkers, G. T., Waterham, H. R., Wanders, R. J. A., & Poll-The, B. T. (1999). Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome. Nature Genetics. https://doi.org/10.1038/9691
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.
