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Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Drenth JPH, Cuisset L, Grateau G, et al (1999) Mutations in the gene encoding mevalonate kinase cause hyper-IgD and periodic fever syndrome Nature Genetics 22: 178-181.

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  • Houten SM, Kuis W, Duran M, et al (1999) Mutations in MVK, encoding mevalonate kinase, cause hyperimmunoglobulinaemia D and periodic fever syndrome Nature Genetics 22: 175-177.

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  • Poll-The BT, Frenkel J, Houten SM, et al (2000) Mevalonic aciduria in 12 unrelated patients with hyperimmunoglobulinaemia D and periodic fever syndrome. J Inherit Metab Dis 23: 363-366.

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Authors and Affiliations

  1. II Pediatric Unit ‘Gaslini’ Institute Genoa, Italy

    M. Di Rocco, P. Picco & A. Loy

  2. Laboratory for the Study of Metabolic Diseases, Department of Pediatrics, University of Genoa, Italy

    U. Caruso

  3. Laboratory of Genetic Metabolic Diseases, Academic Medical Center, Amsterdam, The Netherlands

    H. R. Waterham & R. J. A. Wanders

Authors
  1. M. Di Rocco
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  2. U. Caruso
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  3. H. R. Waterham
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  4. P. Picco
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  5. A. Loy
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  6. R. J. A. Wanders
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Di Rocco, M., Caruso, U., Waterham, H.R. et al. Mevalonate kinase deficiency in a child with periodic fever and without hyperimmunoglobulinaemia D. J Inherit Metab Dis 24, 411–412 (2001). https://doi.org/10.1023/A:1010525206818

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  • DOI: https://doi.org/10.1023/A:1010525206818

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