Clinical utility of chitotriosidase enzyme activity in nephropathic cystinosis

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 th...

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Bibliografske podrobnosti
izdano v:Orphanet J Rare Dis
Main Authors: 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
Format: Artigo
Jezik:Inglês
Izdano: BioMed Central 2014
Teme:
Research
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC4269071/
https://ncbi.nlm.nih.gov/pubmed/25407738
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13023-014-0155-z
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