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Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis

  • Conference paper
First Trimester Fetal Diagnosis

Abstract

Nephropathic cystinosis is a recessively inherited inborn error of metabolism characterized by greatly elevated levels of intracellular, intralysosomal cystine accumulation in many cells of affected individuals. Death from progressive renal failure usually occurs before 12 years of age, unless renal transplantation is performed (Schneider and Schulman 1983). Experimental therapy with orally administered cysteamine appears to be of some value in retardating or preventing the progress of renal damage in some patients, but treatment of this disorder is still quite unsatisfactory (Schneider et al. in preparation).

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References

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Author information

Authors and Affiliations

  1. National Institutes of Health, Bethesda, Md, USA

    W. A. Gahl, A. Dorfmann, M. I. Evans, E. M. Karson, E. J. Landsberger, S. E. Fabro & J. D. Schulman

  2. Wayne State University Detroit, Michigan, USA

    W. A. Gahl, A. Dorfmann, M. I. Evans, E. M. Karson, E. J. Landsberger, S. E. Fabro & J. D. Schulman

  3. George Washington and Georgetown University, Washington, D. C., USA

    W. A. Gahl, A. Dorfmann, M. I. Evans, E. M. Karson, E. J. Landsberger, S. E. Fabro & J. D. Schulman

  4. The Genetics and IVF Institute and Fairfax Hospital, Fairfax, Virginia, USA

    W. A. Gahl, A. Dorfmann, M. I. Evans, E. M. Karson, E. J. Landsberger, S. E. Fabro & J. D. Schulman

Authors
  1. W. A. Gahl
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  2. A. Dorfmann
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  3. M. I. Evans
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  4. E. M. Karson
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  5. E. J. Landsberger
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  6. S. E. Fabro
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  7. J. D. Schulman
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Editor information

Editors and Affiliations

  1. Istituto di Biologia Generale e Genetica Medica, Via Forlanini 14, C.P. 217, I-27100, Pavia, Italy

    Marco Fraccaro

  2. Laboratorio di Citogenetica, I. Clinica Ostetrica e Ginecologica, Universitá di Milano, Via Commenda 12, I-20122, Milano, Italy

    Giuseppe Simoni

  3. Unità di Medicina Perinatale, I. Clinica Ostetrica e Ginecologica, Università di Milano, Via Commenda 12, I-20122, Milano, Italy

    Bruno Brambati M.D.

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© 1985 Springer-Verlag Berlin Heidelberg

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Gahl, W.A. et al. (1985). Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis. In: Fraccaro, M., Simoni, G., Brambati, B. (eds) First Trimester Fetal Diagnosis. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-70707-0_41

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  • DOI: https://doi.org/10.1007/978-3-642-70707-0_41

  • Publisher Name: Springer, Berlin, Heidelberg

  • Print ISBN: 978-3-540-15785-4

  • Online ISBN: 978-3-642-70707-0

  • eBook Packages: Springer Book Archive

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