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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 aminothiol a...

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Principais autores: Raffaele Simeoli, Sara Cairoli, Marcella Greco, Francesco Bellomo, Alessandro Mancini, Chiara Rossi, Carlo Dionisi Vici, Francesco Emma, Bianca Maria Goffredo
Format: Artigo
Jezik:Inglês
Izdano: MDPI AG 2024-05-01
Serija:Pharmaceuticals
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Online dostop:https://www.mdpi.com/1424-8247/17/5/649
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