Article
Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis.
Orphanet journal of rare diseases - 19 Nov 2014
Elmonem Mohamed A, Makar Samuel H, van den Heuvel Lambertus, Abdelaziz Hanan, Abdelrahman Safaa M, Bossuyt Xavier, Janssen Mirian C, Cornelissen Elisabeth Am, Lefeber Dirk J, Joosten Leo Ab, Nabhan Marwa M, Arcolino Fanny O, Hassan Fayza A, Gaide Chevronnay Héloïse P, Soliman Neveen A, Levtchenko Elena
Abstract excerpt
BACKGROUND: Nephropathic cystinosis is an inherited autosomal recessive lysosomal storage disorder characterized by the pathological accumulation and crystallization of cystine inside different cell types. WBC cystine determination forms the basis for the diagnosis and therapeutic monitoring with the cystine depleting drug (cysteamine). The chitotriosidase enzyme is a human chitinase, produced by activated...
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