Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols-Reference-Cited by-同舟云学术

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Genetically and clinically confirmed atypical cerebrotendinous xanthomatosis with normal cholestanol and marked elevations of bile acid precursors and bile alcohols

Published:2024-05 Issue:3 Volume:18 Page:e465-e476
ISSN:1933-2874
Container-title:Journal of Clinical Lipidology
language:en
Short-container-title:Journal of Clinical Lipidology

Author:

DeBarber Andrea E.^ORCID,Schaefer Ernst J.^ORCID,Do Jenny^ORCID,Ray Joseph W^ORCID,Larson Austin,Redder Samantha,Fowler Maya,Duell P. Barton^ORCID

Publisher

Elsevier BV

Reference40 articles.

1. Cerebrotendinous Xanthomatosis;Federico,2003

2. Update on cerebrotendinous xanthomatosis;DeBarber;Curr Opin Lipidol,2021

3. Diagnosis, treatment, and clinical outcomes in 43 cases with cerebrotendinous xanthomatosis;Duell;J Clin Lipidol,2018

4. A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis;Mignarri;J Inherit Metab Dis,2014

5. Apparent underdiagnosis of cerebrotendinous xanthomatosis revealed by analysis of ∼60,000 human exomes;Appadurai;Mol Genet Metab,2015

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