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Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1963 2
1964 3
1966 1
1967 2
1968 1
1969 3
1970 3
1971 4
1972 7
1973 10
1974 7
1975 6
1976 6
1977 4
1978 3
1979 3
1981 6
1982 3
1983 6
1984 7
1985 6
1986 7
1987 4
1988 12
1989 8
1990 14
1991 13
1992 7
1993 9
1994 16
1995 10
1996 14
1997 10
1998 9
1999 4
2000 11
2001 15
2002 14
2003 10
2004 12
2005 12
2006 8
2007 11
2008 9
2009 15
2010 11
2011 17
2012 14
2013 20
2014 16
2015 20
2016 13
2017 25
2018 26
2019 22
2020 19
2021 15
2022 14
2023 12
2024 3

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550 results

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Page 1
Laboratory investigations.
Boltshauser E, Weber KP. Boltshauser E, et al. Handb Clin Neurol. 2018;154:287-298. doi: 10.1016/B978-0-444-63956-1.00017-5. Handb Clin Neurol. 2018. PMID: 29903445 Review.
Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cerebrotendinous xanthomatosis, glucose transporter type 1 deficiency, Refsum disease, and vitamin E deficiency), but autoimmune ataxias, …
Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, cereb …
Fibrohistiocytic Tumors.
Romano RC, Fritchie KJ. Romano RC, et al. Clin Lab Med. 2017 Sep;37(3):603-631. doi: 10.1016/j.cll.2017.05.007. Epub 2017 Jun 15. Clin Lab Med. 2017. PMID: 28802503 Review.
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 xanthomatosis
[Sitosterolemia (phytosterolemia)].
Lütjohann D. Lütjohann D. Internist (Berl). 2019 Aug;60(8):871-877. doi: 10.1007/s00108-019-0635-2. Internist (Berl). 2019. PMID: 31254003 Review. German.
Update on Sitosterolemia and Atherosclerosis.
Rocha VZ, Tada MT, Chacra APM, Miname MH, Mizuta MH. Rocha VZ, et al. Curr Atheroscler Rep. 2023 May;25(5):181-187. doi: 10.1007/s11883-023-01092-4. Epub 2023 Mar 10. Curr Atheroscler Rep. 2023. PMID: 36897412 Review.
Clinically, patients with sitosterolemia usually exhibit xanthomatosis, high levels of plasma cholesterol, and premature atherosclerotic disease, but presentation can be highly heterogeneous. ...Sitosterolemia is a genetic lipid disorder characterized by increased circulat …
Clinically, patients with sitosterolemia usually exhibit xanthomatosis, high levels of plasma cholesterol, and premature atherosclero …
Hereditary ataxias: overview.
Jayadev S, Bird TD. Jayadev S, et al. Genet Med. 2013 Sep;15(9):673-83. doi: 10.1038/gim.2013.28. Epub 2013 Mar 28. Genet Med. 2013. PMID: 23538602 Free article. Review.
Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin E deficiency, cerebrotendinous xanthomatosis, Refsum, and coenzyme Q10 deficiency), whereas there are no specific treatments for other ataxias. ...
Four autosomal recessive types have dietary or biochemical treatment modalities (ataxia with vitamin E deficiency, cerebrotendinous xanth
Cerebrotendinous xanthomatosis.
Björkhem I. Björkhem I. Curr Opin Lipidol. 2013 Aug;24(4):283-7. doi: 10.1097/MOL.0b013e328362df13. Curr Opin Lipidol. 2013. PMID: 23759795 Review.
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol and cholestanol in brain and tendons caused by a mutation in the sterol 27-hydroxylase gene (CYP27A1). ...
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare neurological disease characterized by accumulation of cholesterol a …
Atypical Fibroxanthoma Revisited.
Mentzel T, Requena L, Brenn T. Mentzel T, et al. Surg Pathol Clin. 2017 Jun;10(2):319-335. doi: 10.1016/j.path.2017.01.007. Epub 2017 Mar 14. Surg Pathol Clin. 2017. PMID: 28477883 Review.
550 results