Expanding the clinical spectrum of cerebrotendinous xanthomatosis: Implications for newborn screening, follow-up and treatment
J Intern Med
.
2021 Nov;290(5):942-943.
doi: 10.1111/joim.13276.
Epub 2021 Mar 24.
Author
C E M Hollak
1
Affiliation
1
From the, Department of Internal Medicine / Endocrinology and Metabolism, Academic Medical Center, Amsterdam, the Netherlands.
PMID:
33760321
DOI:
10.1111/joim.13276
No abstract available
Publication types
Editorial
Comment
MeSH terms
Chenodeoxycholic Acid
Follow-Up Studies
Humans
Infant, Newborn
Neonatal Screening
Xanthomatosis, Cerebrotendinous* / diagnosis
Xanthomatosis, Cerebrotendinous* / therapy
Substances
Chenodeoxycholic Acid