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A useful multi-analyte blood test for cerebrotendinous xanthomatosis

OBJECTIVES: Cerebrotendinous xanthomatosis (CTX) is a rare genetic disorder of bile acid (BA) synthesis that can cause progressive neurological damage and premature death. Blood (normally serum or plasma) testing for CTX is performed by a small number of specialized laboratories, routinely by gas ch...

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Detalhes bibliográficos
Main Authors: DeBarber, Andrea E, Luo, Jenny, Giugliani, Roberto, Souza, Carolina FM, Chiang, John (Pei-Wen), Merkens, Louise S, Pappu, Anuradha S, Steiner, Robert D
Formato: Artigo
Idioma:Inglês
Publicado em: 2014
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4175980/
https://ncbi.nlm.nih.gov/pubmed/24769274
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clinbiochem.2014.04.017
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