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Cerebrotendinous xanthomatosis: a rare disorder with a rare presentation
A young man was brought for mental retardation, frequent non-bloody diarrhoea and swellings at ankles and elbow. He became bed-ridden due to cataract, mental retardation and pain in the back and lower limb. There were repeated pathological fractures and vitamin D deficiency without renal dysfunction...
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| Publicado no: | BMJ Case Rep |
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| Main Authors: | , |
| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
BMJ Group
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC4543233/ https://ncbi.nlm.nih.gov/pubmed/23001091 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/bcr-2012-006202 |
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