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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Enregistré dans:
Détails bibliographiques
Publié dans:Orphanet J Rare Dis
Auteurs principaux: 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
Langue:Inglês
Publié: BioMed Central 2014
Sujets:
Research
Accès en ligne: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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