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    Chapter and Conference Paper

    Chorionic Biopsy in the Prenatal Diagnosis of Nephropathic Cystinosis

    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 individual...

    W. A. Gahl, A. Dorfmann, M. I. Evans, E. M. Karson… in First Trimester Fetal Diagnosis (1985)