Skeletal implications and management of cystinosis: three case reports and literature review

Hypophosphatemic rickets and short stature are observed in nephropathic cystinosis, an orphan autosomal recessive lysosomal storage disease due to a deficiency of cystinosin (CTNS gene). Although bone impairment is not common, it nevertheless appears to be more and more discussed by experts, even th...

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Publicado en:Bonekey Rep
Autores principales: Bacchetta, Justine, Greco, Marcella, Bertholet-Thomas, Aurélia, Nobili, François, Zustin, Jozef, Cochat, Pierre, Emma, Francesco, Boivin, Georges
Formato: Artigo
Lenguaje:Inglês
Publicado: Nature Publishing Group 2016
Materias:
Review Article
Acceso en línea:https://ncbi.nlm.nih.gov/pmc/articles/PMC4988218/
https://ncbi.nlm.nih.gov/pubmed/27579165
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/bonekey.2016.55
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