PubMed for id: 450999

Year	Number of Results
1972	1
1973	1
1974	2
1975	1
1976	3
1977	2
1978	1
1980	2
1981	3
1982	5
1983	4
1984	3
1985	1
1986	8
1987	5
1988	8
1989	11
1990	4
1991	5
1992	7
1993	13
1994	4
1995	7
1996	4
1997	3
1998	8
1999	7
2000	9
2001	10
2002	8
2003	4
2004	6
2005	9
2006	9
2007	8
2008	9
2009	11
2010	10
2011	10
2012	6
2013	19
2014	11
2015	11
2016	14
2017	24
2018	21
2019	13
2020	15
2021	28
2022	18
2023	22
2024	10

1

Mild untreated hypercholesterolaemia affects mechanical properties of the Achilles tendon but not gastrocnemius muscle.

Coombes BK, Hanna M, Thompson KA, Coppieters MW, Dick TJM, Andrade RJ, Barber L. Coombes BK, et al. J Biomech. 2024 Mar;166:112048. doi: 10.1016/j.jbiomech.2024.112048. Epub 2024 Mar 14. J Biomech. 2024. PMID: 38493577 Free article.

2

Clinical and Imaging Profile of Patients with Cerebrotendinous Xanthomatosis - a Video Case Series from India.

Katragadda P, Holla VV, Kamble N, Saini J, Yadav R, Pal PK. Katragadda P, et al. Tremor Other Hyperkinet Mov (N Y). 2024 Mar 6;14:10. doi: 10.5334/tohm.851. eCollection 2024. Tremor Other Hyperkinet Mov (N Y). 2024. PMID: 38476584 Free PMC article.

3

Cerebrotendinous Xanthomatosis patients with late diagnosed in single orthopedic clinic: two novel variants in the CYP27A1 gene.

Köroğlu M, Karakaplan M, Gündüz E, Kesriklioğlu B, Ergen E, Aslantürk O, Özdemir ZM. Köroğlu M, et al. Orphanet J Rare Dis. 2024 Feb 9;19(1):53. doi: 10.1186/s13023-024-03082-4. Orphanet J Rare Dis. 2024. PMID: 38336741 Free PMC article.

4

The 20-Year Diagnostic Odyssey of a Milder Form of Cerebrotendinous Xanthomatosis.

Guay SP, Paquette M, Poulin V, Levtova A, Baass A, Bernard S. Guay SP, et al. JCEM Case Rep. 2024 Jan 19;2(2):luae004. doi: 10.1210/jcemcr/luae004. eCollection 2024 Feb. JCEM Case Rep. 2024. PMID: 38249444 Free PMC article.

5

Diagnosis of Familial Hypercholesterolemia in Children and Young Adults.

Timoshchenko O, Ivanoshchuk D, Semaev S, Orlov P, Zorina V, Shakhtshneider E. Timoshchenko O, et al. Int J Mol Sci. 2023 Dec 25;25(1):314. doi: 10.3390/ijms25010314. Int J Mol Sci. 2023. PMID: 38203485 Free PMC article.

6

Factors associated with the presence of tendon xanthomas in familial hypercholesterolemia.

Corredoira P, Marco-Benedi V, Cenarro A, Peribáñez S, Olmos S, Civeira F. Corredoira P, et al. Rev Esp Cardiol (Engl Ed). 2024 Jan 5:S1885-5857(24)00013-6. doi: 10.1016/j.rec.2023.12.003. Online ahead of print. Rev Esp Cardiol (Engl Ed). 2024. PMID: 38185215 English, Spanish.

7

Case Report: a novel CYP27A1 gene variant in a patient with cerebrotendinous xanthomatosis with unusual clinical findings.

Tama Viteri FA, Cotán Marín D, Sánchez FAT, Sánchez MAT. Tama Viteri FA, et al. Int J Neurosci. 2023 Dec 28:1-9. doi: 10.1080/00207454.2023.2300735. Online ahead of print. Int J Neurosci. 2023. PMID: 38153323

8

Cerebrotendinous xanthomatosis presenting with schizophrenia-like disorder: A case report.

Ling CX, Gao SZ, Li RD, Gao SQ, Zhou Y, Xu XJ. Ling CX, et al. World J Psychiatry. 2023 Nov 19;13(11):967-972. doi: 10.5498/wjp.v13.i11.967. eCollection 2023 Nov 19. World J Psychiatry. 2023. PMID: 38073893 Free PMC article.

9

Widespread xanthomas regression by personalized lipid lowering therapy in heterozygous familial hypercholesterolemia.

Sbrana F, Pino BD, Bigazzi F, Sampietro T. Sbrana F, et al. Clin Investig Arterioscler. 2024 Jan-Feb;36(1):35-37. doi: 10.1016/j.arteri.2023.11.002. Epub 2023 Nov 27. Clin Investig Arterioscler. 2024. PMID: 38016879 English, Spanish.

10

Achilles tendon ultrasonography in the clinical screening of familial hypercholesterolaemia - a cross-sectional analysis.

De Montmollin M, Bétrisey S, Feller M, Moutzouri E, Blum MR, Amsler J, Papazoglou DD, Möller B, Rodondi N. De Montmollin M, et al. Swiss Med Wkly. 2023 Nov 20;153:40127. doi: 10.57187/smw.2023.40127. Swiss Med Wkly. 2023. PMID: 37984334 Free article.

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