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Carbohydrate-deficient glycoprotein syndrome type 2

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Journal of Inherited Metabolic Disease

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REFERENCES

  • Jaeken J, De Cock P, Stibler H, et al (1991) Carbohydrate-deficient glycoprotein syndrome type II. J Inher Metab Dis 16: 1041.

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  • Tan J, Dunn J, Jaeken J, Schachter H (1996) Mutations in the MGAT2 gene controlling complex N-glycan synthesis cause carbohydrate-deficient glycoprotein syndrome type II, an autosomal recessive disease with defective brain development. Am J Hum Genet 59: 810-817.

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Authors and Affiliations

  1. Children's Hospital, Technical University, Munich, Germany

    H. Engelhardt, M. Staudt, A. Hässler, P. Freisinger & I. Krägeloh-mann

  2. Department of Pediatrics and Neuropediatrics, Georg-August-University, Göttingen, Germany

    U. Holzbach

Authors
  1. H. Engelhardt
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  2. M. Staudt
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  3. A. Hässler
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  4. U. Holzbach
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  5. P. Freisinger
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  6. I. Krägeloh-mann
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Engelhardt, H., Staudt, M., Hässler, A. et al. Carbohydrate-deficient glycoprotein syndrome type 2. J Inherit Metab Dis 22, 192–193 (1999). https://doi.org/10.1023/A:1005422610091

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  • DOI: https://doi.org/10.1023/A:1005422610091

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