A New and Rapid LC-MS/MS Method for the Determination of Cysteamine Plasma Levels in Cystinosis Patients

• Үндсэн зохиолчид: Raffaele Simeoli (Зохиогч), Sara Cairoli (Зохиогч), Marcella Greco (Зохиогч), Francesco Bellomo (Зохиогч), Alessandro Mancini (Зохиогч), Chiara Rossi (Зохиогч), Carlo Dionisi Vici (Зохиогч), Francesco Emma (Зохиогч), Bianca Maria Goffredo (Зохиогч)
• Формат: Ном
• Хэвлэсэн: MDPI AG, 2024-05-01T00:00:00Z.
• Нөхцлүүд: article
• Онлайн хандалт: Connect to this object online.

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...