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Update on cerebrotendinous xanthomatosis.
DeBarber AE, Duell PB. DeBarber AE, et al. Curr Opin Lipidol. 2021 Apr 1;32(2):123-131. doi: 10.1097/MOL.0000000000000740. Curr Opin Lipidol. 2021. PMID: 33630770 Review.
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clinical phenotype. ...
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphic clini …
The Inherited Hypercholesterolemias.
Loh WJ, Watts GF. Loh WJ, et al. Endocrinol Metab Clin North Am. 2022 Sep;51(3):511-537. doi: 10.1016/j.ecl.2022.02.006. Epub 2022 Jul 4. Endocrinol Metab Clin North Am. 2022. PMID: 35963626 Review.
Inherited hypercholesterolemias include monogenic and polygenic disorders, which can be very rare (eg, cerebrotendinous xanthomatosis (CTX)) or relatively common (eg, familial combined hyperlipidemia [FCH]). ...
Inherited hypercholesterolemias include monogenic and polygenic disorders, which can be very rare (eg, cerebrotendinous xanthomato …
Cerebrotendinous xanthomatosis revisited.
Baghbanian SM, Mahdavi Amiri MR, Majidi H. Baghbanian SM, et al. Pract Neurol. 2021 Jun;21(3):243-245. doi: 10.1136/practneurol-2020-002895. Epub 2021 Apr 14. Pract Neurol. 2021. PMID: 33853856
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progressive neurodegeneration, juvenile cataracts and tendon xanthomas in adults. ...
Cerebrotendinous xanthomatosis is a rare autosomal recessive lipid storage syndrome defined clinically by the triad of progres …
Cerebrotendinous xanthomatosis without neurological involvement.
Stelten BML, Raal FJ, Marais AD, Riksen NP, Roeters van Lennep JE, Duell PB, van der Graaf M, Kluijtmans LAJ, Wevers RA, Verrips A. Stelten BML, et al. J Intern Med. 2021 Nov;290(5):1039-1047. doi: 10.1111/joim.13277. Epub 2021 Apr 8. J Intern Med. 2021. PMID: 33830582 Free article.
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. ...
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is an autosomal recessively inherited inborn error of metabolism. ...
Newborn screening for lipid disorders.
Shao X, Steiner R, Peterson AL. Shao X, et al. Curr Opin Lipidol. 2024 Jun 1;35(3):149-156. doi: 10.1097/MOL.0000000000000928. Epub 2024 Feb 26. Curr Opin Lipidol. 2024. PMID: 38408035 Review.
RECENT FINDINGS: Recent studies have demonstrated feasibility of measuring biomarkers for heterozygous familial hypercholesterolemia from newborn screening dried blood spot specimens. Another lipid disorder, cerebrotendinous xanthomatosis, is currently amenable to n …
RECENT FINDINGS: Recent studies have demonstrated feasibility of measuring biomarkers for heterozygous familial hypercholesterolemia from ne …
Allelic prevalence and geographic distribution of cerebrotendinous xanthomatosis.
Pramparo T, Steiner RD, Rodems S, Jenkinson C. Pramparo T, et al. Orphanet J Rare Dis. 2023 Jan 17;18(1):13. doi: 10.1186/s13023-022-02578-1. Orphanet J Rare Dis. 2023. PMID: 36650582 Free PMC article.
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid synthesis due to inactivation of the CYP27A1 gene. ...
BACKGROUND: Cerebrotendinous xanthomatosis (CTX) is a rare recessive genetic disease characterized by disruption of bile acid …
Treatment of cerebrotendinous xanthomatosis in pregnancy: Patient and physician perspectives.
Duell PB, Dutta R, Wolf A, Rosengrant H. Duell PB, et al. J Clin Lipidol. 2023 Sep-Oct;17(5):700-703. doi: 10.1016/j.jacl.2023.07.002. Epub 2023 Jul 17. J Clin Lipidol. 2023. PMID: 37543441 Free article.
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis that presents with varied and progressive symptomology. ...
Cerebrotendinous xanthomatosis (CTX) is a rare, autosomal recessive disorder of bile acid synthesis that presents with varied …
Living with Cerebrotendinous Xanthomatosis: Patient, Caregiver, and Expert Perspectives.
Steiner RD, DeBarber A, Larson A, Blanchard B, Laurie S, Odedara N, Rosengrant H, Dutta R. Steiner RD, et al. Adv Ther. 2024 Feb;41(2):467-475. doi: 10.1007/s12325-023-02687-8. Epub 2023 Dec 19. Adv Ther. 2024. PMID: 38110654 Free PMC article.
In this article, patients with cerebrotendinous xanthomatosis (CTX) and caregivers detail their experience with lifelong symptoms, diagnosis, treatment and efficacy, and ongoing disease management. ...
In this article, patients with cerebrotendinous xanthomatosis (CTX) and caregivers detail their experience with lifelong sympt …
100 results