Effects of oral phosphocysteamine and rectal cysteamine in cystinosis. [PDF]
, 1991 William G. van’t Hoff +6 more
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NeuroImage: Clinical, 2020 Cystinosis, a genetic rare disease characterized by cystine accumulation and crystallization, results in significant damage in a multitude of tissues and organs, such as the kidney, thyroid, eye, and brain.
Ana A. Francisco +3 more
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GROWTH RETARDATION AND URINARY LOSS OF GROWTH HORMONE IN CYSTINOSIS [PDF]
, 1993 Niels Thomas Hertel +3 more
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Molecular Characterization of CTNS Deletions in Nephropathic Cystinosis: Development of a PCR-Based Detection Assay [PDF]
, 1999 Lionel Forestier +8 more
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Emerging therapeutic strategies for cystinosis
Frontiers in PediatricsFor over 40 years, oral cysteamine has been the mainstay of therapy for cystinosis. While it has been of great benefit, slowing organ deterioration and prolonging life, cysteamine is not well tolerated and may not rescue all pathogenic mechanisms driving
Paul Goodyer +3 more
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The Genomic Region Encompassing the Nephropathic Cystinosis Gene (CTNS): Complete Sequencing of a 200-kb Segment and Discovery of a Novel Gene within the Common Cystinosis-Causing Deletion [PDF]
, 2000 Jeffrey W. Touchman +9 more
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Cystinosin, the protein defective in cystinosis, is a H+-driven lysosomal cystine transporter [PDF]
, 2001 Vasiliki Kalatzis
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The Promoter of a Lysosomal Membrane Transporter Gene, CTNS, Binds Sp-1, Shares Sequences with the Promoter of an Adjacent Gene, CARKL, and Causes Cystinosis If Mutated in a Critical Region [PDF]
, 2001 Chanika Phornphutkul +6 more
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