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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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Dettagli Bibliografici
Pubblicato in:BMJ Case Rep
Autori principali: Agrawal, N K, Garg, Sunny
Natura: Artigo
Lingua:Inglês
Pubblicazione: BMJ Group 2012
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Accesso online: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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