Molecular Based Newborn Screening in Germany: Follow-up for Cystinosis
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Study of ATP Metabolism in Human Cystinotic Proximal Tubular Cell and in Humans with Cystinosis in Vivo
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Successful Treatment of the Murine Model of Cystinosis Using Bone Marrow Cell Transplantation
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The Redox Status of Cystinotic Fibroblasts
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The Incidence of Atubular Glomeruli in Nephropathic Cystinosis Renal Biopsies
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Kidney Preservation by Bone Marrow Cell Transplantation in Hereditary Nephropathy
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The 57 kb Deletion in Cystinosis Patients Extends into TRPV1 Causing Dysregulation of Transcription in Peripheral Blood Mononuclear Cells
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Genetic Basis of Cystinosis in Turkish Patients: a Single-center Experience
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Mutational Spectrum of the CTNS Gene in Egyptian Patients with Nephropathic Cystinosis
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Hematopoietic Stem Cell Gene Therapy for Multisystemic Lysosomal Storage Disorder Cystinosis
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