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Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family

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Journal of Inherited Metabolic Disease

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References

  • Fenton WA, Rosenberg LE (1995) Inherited disorders of cobalamin transport and metabolism. In Scriver CR, Beaudet AL, Sly WS, Valle D, eds. The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 1535-1609.

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  • Rosenblatt DS, Aspler AL, Shevell MI, Pletcher BA, Fenton WA, Seashore MR (1997) Clinical heterogeneity and prognosis in combined methylmalonic aciduria and homocystinuria (cblC). J Inher Metab Dis 20: 528-538.

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Authors and Affiliations

  1. A'Pediatric Biochemistry Laboratory, Aristotle University of Thessaloniki, Greece

    P. Augoustides-Savvopoulou

  2. B'Neurology epartment, Aristotle University of Thessaloniki, Greece

    I. Mylonas

  3. University Children's Hospital, Frankfurt, Germany

    A. C. Sewell

  4. Department of Human Genetics, McGill University, Montreal, Canada

    D. S. Rosenblatt

Authors
  1. P. Augoustides-Savvopoulou
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  2. I. Mylonas
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  3. A. C. Sewell
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  4. D. S. Rosenblatt
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Augoustides-Savvopoulou, P., Mylonas, I., Sewell, A.C. et al. Reversible dementia in an adolescent with cblC disease: Clinical heterogeneity within the same family. J Inherit Metab Dis 22, 756–758 (1999). https://doi.org/10.1023/A:1005508620919

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  • DOI: https://doi.org/10.1023/A:1005508620919

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