Category: Newborn Screening

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Newborn Screening: Review of its Impact for Cystinosis 

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Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis

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Elevated Concentrations of Seduheptulose in Bloodspots of Patients with Cystinosis Caused by the 57-kb Deletion: Implications for Diagnosis and Neonatal Screening

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