Misdiagnosis of CTX due to propofol: The interference of total intravenous propofol anaesthesia with bile acid profiling

BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder, characterised by chronic diarrhoea, xanthomas, cataracts, and neurological deterioration. CTX is caused by CYP27A1 deficiency, which leads to abnormal cholesterol and bile acid metabolism. Urinary bile acid profiling (incre...

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Bibliografische gegevens
Gepubliceerd in:J Inherit Metab Dis
Hoofdauteurs: Claesen, Joep L. A., Koomen, Erik, Schene, Imre F., Jans, Judith J. M., Mast, Natalia, Pikuleva, Irina A., van der Ham, Maria, de Sain‐van der Velden, Monique G. M., Fuchs, Sabine A.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley & Sons, Inc. 2020
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Original Articles
Online toegang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7354202/
https://ncbi.nlm.nih.gov/pubmed/31990370
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/jimd.12219
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