Familial variability of cerebrotendinous xanthomatosis lacking typical biochemical findings.
cerebrotendinous xanthomatosis (CTX)
cholestanol
genotype‐phenotype correlation
spinal xanthomatosis
sterols
xanthomas
Journal
JIMD reports
ISSN: 2192-8304
Titre abrégé: JIMD Rep
Pays: United States
ID NLM: 101568557
Informations de publication
Date de publication:
May 2021
May 2021
Historique:
received:
01
11
2020
revised:
18
12
2020
accepted:
22
12
2020
entrez:
12
5
2021
pubmed:
13
5
2021
medline:
13
5
2021
Statut:
epublish
Résumé
Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive disorder of bile acid synthesis caused by pathogenic variants in the
Identifiants
pubmed: 33977023
doi: 10.1002/jmd2.12197
pii: JMD212197
pmc: PMC8100391
doi:
Types de publication
Case Reports
Langues
eng
Pagination
3-9Informations de copyright
© 2021 The Authors. JIMD Reports published by John Wiley & Sons Ltd on behalf of SSIEM.
Déclaration de conflit d'intérêts
A. D. has received Honoraria from Leadiant Biosciences and Retrophin, as well as grant funding from Retrophin. The OHSU Foundation and Chemical Physiology and Biology Department have received gifts from Retrophin. These gifts, which have not been made specifically in connection with this research, have been reviewed by the OHSU integrity office. All other authors declare no conflict of interest.
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