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Prenatal Diagnosis of Cystinosis

Prenatal Diagnosis of Cystinosis,10.1056/NEJM197404182901604,New England Journal of Medicine,Jerry A. Schneider,Francoise M. Verroust,Wolfgang A. Krol

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    • ...However, retinal epithelium vacuolization has already described in an 18-week-old fetus and fundoscopic retinal changes were observed in two siblings with cystinosis as early as 5 and 10 weeks of age [25, 26]...

    Martijn J. Wilmeret al. Cystinosis: practical tools for diagnosis and treatment

    • ...Prenatal diagnosis can be perfomed on either cultured amniocytes following amniocentesis [69] or chorionic villi samples [70, 71]...

    Jerry A. Schneideret al. Update on nephropathic cystinosis

    • ...of cystine in cystinosis [3], of sialic acid in the different types of sialic acid storage disease [4] or of copper in Menkes' kinky hair disease [5]...
    • ...Prenatal diagnosis of this autosomal recessively inherited disorder has been performed by many investigators, including our own laboratory, using the method of Schneider et al. [3]...
    • ...Many fetal tissues, including placenta cells of cystinotic fetuses, exhibit an increased amount of free cystine [3]...

    Erik Harms. Prenatal diagnosis of inborn errors of metabolism with renal manifesta...

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