Cerebrotendinous xanthomatosis with radiological abnormalities of the chest.
neurology
respiratory medicine
Journal
BMJ case reports
ISSN: 1757-790X
Titre abrégé: BMJ Case Rep
Pays: England
ID NLM: 101526291
Informations de publication
Date de publication:
03 Sep 2021
03 Sep 2021
Historique:
entrez:
4
9
2021
pubmed:
5
9
2021
medline:
8
9
2021
Statut:
epublish
Résumé
A 55-year-old man with mental retardation and calcaneal tendon thickening was referred for a suspected genetic disease. His serum cholestanol was elevated and genetic analysis of his blood cells for
Identifiants
pubmed: 34479889
pii: 14/9/e243715
doi: 10.1136/bcr-2021-243715
pmc: PMC8420669
pii:
doi:
Substances chimiques
Chenodeoxycholic Acid
0GEI24LG0J
Cholestanol
8M308U816E
Cholestanetriol 26-Monooxygenase
EC 1.14.15.15
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Informations de copyright
© BMJ Publishing Group Limited 2021. No commercial re-use. See rights and permissions. Published by BMJ.
Déclaration de conflit d'intérêts
Competing interests: None declared.
Références
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