A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients
Cystinosis is a rare lysosomal storage disorder caused by autosomal recessive mutations in the <i>CTNS</i> gene that encodes for the cystine transporter cystinosin, which is expressed on the lysosomal membrane mediating the efflux of cystine. Cysteamine bitartrate is a cystine-depleting...
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Main Authors: | Raffaele Simeoli (Author), Sara Cairoli (Author), Marcella Greco (Author), Francesco Bellomo (Author), Alessandro Mancini (Author), Chiara Rossi (Author), Carlo Dionisi Vici (Author), Francesco Emma (Author), Bianca Maria Goffredo (Author) |
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Format: | Book |
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MDPI AG,
2024-05-01T00:00:00Z.
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