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Cerebrotendinous xanthomatosis - The spectrum of imaging findings

Cerebrotendinous xanthomatosis (CTX), also known as Van Bogaert-Scherer-Epstein disease is a rare autosomal recessive genetic disorder of the lipid metabolism. To date, there are less than 300 cases reported worldwide. We present a case of a 30 year old male who presented with mental retardation and...

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Hlavní autoři: Pudhiavan, Arunachalam, Agrawal, Alka, Chaudhari, Sangit, Shukla, Anil
Médium: Artigo
Jazyk:Inglês
Vydáno: EduRad 2013
Témata:
On-line přístup:https://ncbi.nlm.nih.gov/pmc/articles/PMC3661428/
https://ncbi.nlm.nih.gov/pubmed/23705046
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3941/jrcr.v7i4.1338
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