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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Vydáno v:Orphanet J Rare Dis
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2014
Témata:
Research
On-line přístup: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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