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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 no: | Bonekey Rep |
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| Main Authors: | , , , , , , , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
Nature Publishing Group
2016
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| Assuntos: | |
| Acesso em linha: | 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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