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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Detalhes bibliográficos
Publicado no: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
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2014
Assuntos:
Research
Acesso em linha: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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