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A new gel formulation of topical cysteamine for the treatment of corneal cystine crystals in cystinosis: the Cystadrops OCT-1 study.
Mol Genet Metab. 2014 Mar;111(3):314-320. doi: 10.1016/j.ymgme.2013.12.298. Epub 2014 Jan 9.
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Dedifferentiation and aberrations of the endolysosomal compartment characterize the early stage of nephropathic cystinosis.
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Clinical utility gene card for: cystinosis.
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Upregulation of the Rab27a-dependent trafficking and secretory mechanisms improves lysosomal transport, alleviates endoplasmic reticulum stress, and reduces lysosome overload in cystinosis.
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Hematopoietic stem cell gene therapy for the multisystemic lysosomal storage disorder cystinosis.
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Stem cell microvesicles transfer cystinosin to human cystinotic cells and reduce cystine accumulation in vitro.
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Detailed studies of growth hormone secretion in cystinosis patients.
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A randomized controlled crossover trial with delayed-release cysteamine bitartrate in nephropathic cystinosis: effectiveness on white blood cell cystine levels and comparison of safety.
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