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Molybdenum cofactor deficiency associated with Dandy-Walker malformation

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Journal of Inherited Metabolic Disease

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References

  • Duran M, Beemer FA, Heiden CVD, Korteland J, De Bree PK, Brink M et al (1978) Combined deficiency of xanthine oxidase and sulphite oxidase: a defect of molybdenum metabolism or transport?J Inher Metab Dis 1: 175–178.

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  • Johnson JL, Wuebbens MM, Mandell R, Shih VE (1989) Molybdenum cofactor biosynthesis in humans. Identification of two complementation groups of cofactor deficient patients and preliminary characterization of a diffusible molybdopterin precursor.J Clin Invest 83: 897–903.

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Authors and Affiliations

  1. Department of Pediatrics, University Hospital ‘Germans Trias i Pujol’, Badalona, Spain

    G. Pintos-Morell, M. A. Naranjo, M. Artigas & M. Roge

  2. Institute of Clinical Biochemistry, Cerdanyola, Spain

    M. Rodes & M. J. Coll

  3. Department of Biochemistry, Duke University Medical Center, Durham, North Carolina, USA

    J. L. Johnson & K. V. Rajagopalan

Authors
  1. G. Pintos-Morell
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  2. M. A. Naranjo
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  3. M. Artigas
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  4. M. Roge
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  5. M. Rodes
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  6. M. J. Coll
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  7. J. L. Johnson
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  8. K. V. Rajagopalan
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Pintos-Morell, G., Naranjo, M.A., Artigas, M. et al. Molybdenum cofactor deficiency associated with Dandy-Walker malformation. J Inherit Metab Dis 18, 86–87 (1995). https://doi.org/10.1007/BF00711384

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  • DOI: https://doi.org/10.1007/BF00711384

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