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Newborn screening compared to clinical identification of biochemical genetic disorders

  • Published:
Journal of Inherited Metabolic Disease

Abstract

A group of 28 patients with inherited metabolic disease (homocystinuria galactosaemia, maple syrup urine disease and biotinidase deficiency) diagnosed by screening were compared with a group of 17 similar patients identified clinically. The rate of hospitalization was similar for the two groups. The patients diagnosed clinically showed a higher incidence of mental retardation and their parents experienced greater stress and found greater difficulty in meeting their child's needs.

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REFERENCES

  • Levy HL, Albers S (2000) Genetic screeningof newborns. Annu Rev Genomics Hum Genet 1: 139-177.

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  • Read CY (2002) Reproductive decisions of parents of children with metabolic disorders. Clin Genet 61: 268-276.

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Author information

Authors and Affiliations

  1. Children's Hospital, Boston, Massachusetts

    S. E. Waisbren & H. L. Levy

  2. Boston College School of Nursing, Chestnut Hill, Massachusetts

    C. Y. Read

  3. New, England Medical Center, Boston, Massachusetts

    M. Ampola & M. Korson

  4. Maine Medical Center, Portland, Maine

    T. G. Brewster

  5. University of Massachusetts Medical Center, Worcester, Massachusetts

    L. Demmer

  6. Connecticut Children's Medical Center, Hartford, Connecticut

    R. Greenstein

  7. Vermont Department of Health, Burlington, Vermont

    C. L. Ingham

  8. Rhode Island Hospital, Providence, Rhode Island

    M. Msall & S. Pueschel

  9. Yale University School of Medicine, New Haven, Connecticut

    M. Seashore

  10. Massachusetts General Hospital, Boston, Massachusetts, USA

    E. Shih

Authors
  1. S. E. Waisbren
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  2. C. Y. Read
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  3. M. Ampola
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  4. T. G. Brewster
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  5. L. Demmer
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  6. R. Greenstein
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  7. C. L. Ingham
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  8. M. Korson
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  9. M. Msall
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  10. S. Pueschel
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  11. M. Seashore
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  12. E. Shih
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  13. H. L. Levy
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Corresponding author

Correspondence to S. E. Waisbren.

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Cite this article

Waisbren, S.E., Read, C.Y., Ampola, M. et al. Newborn screening compared to clinical identification of biochemical genetic disorders. J Inherit Metab Dis 25, 599–600 (2002). https://doi.org/10.1023/A:1022003726224

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  • DOI: https://doi.org/10.1023/A:1022003726224

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