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

Year Number of Results
1975 2
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1982 3
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1985 1
1986 7
1987 4
1988 4
1989 1
1990 4
1991 6
1992 5
1993 2
1994 7
1995 5
1996 3
1997 1
1998 3
1999 1
2000 7
2001 8
2002 6
2003 6
2004 2
2005 2
2006 10
2007 6
2008 9
2009 5
2010 14
2011 10
2012 12
2013 14
2014 12
2015 10
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2023 12
2024 8

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303 results

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Quoted phrase not found in phrase index: "Cholestanol storage disease"
Page 1
Adulthood leukodystrophies.
Köhler W, Curiel J, Vanderver A. Köhler W, et al. Nat Rev Neurol. 2018 Feb;14(2):94-105. doi: 10.1038/nrneurol.2017.175. Epub 2018 Jan 5. Nat Rev Neurol. 2018. PMID: 29302065 Review.
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, metachromatic leukodystrophy, cerebrotendinous xanthomatosis, hereditary diffuse leukoencephalopathy with axonal spheroids, autos …
In addition, we provide detailed clinical information on selected adult-onset leukodystrophies, including X-linked adrenoleukodystrophy, met …
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR. Ashrafi MR, et al. Expert Rev Neurother. 2020 Jan;20(1):65-84. doi: 10.1080/14737175.2020.1699060. Epub 2019 Dec 12. Expert Rev Neurother. 2020. PMID: 31829048 Review.
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affected population.Expert opinion: The improvements in molecular diagnostic tools allow us to identify the meticulous underlying etiology of leu …
New genetic methods and stem cell transplantation are also under investigation to further increase the quality and duration of life in affec …
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 autoim …
Particular attention is paid to early diagnosis of treatable metabolic ataxias (such as abetalipoproteinemia, coenzyme Q10 deficiency, ce …
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. ...Disease progression can be prevented or stabilized by bile acid replacement therapy, although a subset of pa …
PURPOSE OF REVIEW: Cerebrotendinous xanthomatosis (CTX) is a rare genetic lipid storage disorder with highly pleomorphi …
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 …
Genetics of familial hypercholesterolemia.
Brautbar A, Leary E, Rasmussen K, Wilson DP, Steiner RD, Virani S. Brautbar A, et al. Curr Atheroscler Rep. 2015 Apr;17(4):491. doi: 10.1007/s11883-015-0491-z. Curr Atheroscler Rep. 2015. PMID: 25712136 Review.
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature cardiovascular disease, with a prevalence of approximately 1 in 200-500 for heterozygotes in North America and Europe. ...
Familial hypercholesterolemia (FH) is a genetic disorder characterized by elevated low-density lipoprotein (LDL) cholesterol and premature c …
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 …
Cerebrotendinous xanthomatosis.
Leitersdorf E, Meiner V. Leitersdorf E, et al. Curr Opin Lipidol. 1994 Apr;5(2):138-42. doi: 10.1097/00041433-199404000-00010. Curr Opin Lipidol. 1994. PMID: 8044416 Review.
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol 27-hydroxylase (CYP27) gene. Recent cloning and characterization of CYP27 enables further analysis and understanding of the pathophysiology …
Cerebrotendinous xanthomatosis is an autosomal recessive lipid-storage disease caused by mutations in the sterol …
Inborn Errors of Bile Acid Metabolism.
Heubi JE, Setchell KDR, Bove KE. Heubi JE, et al. Clin Liver Dis. 2018 Nov;22(4):671-687. doi: 10.1016/j.cld.2018.06.006. Epub 2018 Aug 22. Clin Liver Dis. 2018. PMID: 30266156 Review.
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The diagnosis should be considered in the context of hyperbilirubinemia with normal serum bile acids and made by urinary liquid secondary ionizatio …
Inborn errors of bile acid metabolism are rare causes of neonatal cholestasis and liver disease in older children and adults. The dia …
Cerebrotendinous xanthomatosis.
van Hellenberg Hubar JL, Joosten EM, Wevers RA. van Hellenberg Hubar JL, et al. Clin Neurol Neurosurg. 1992;94 Suppl:S165-7. doi: 10.1016/0303-8467(92)90059-c. Clin Neurol Neurosurg. 1992. PMID: 1320501
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism involving bile acid synthesis. ...
Cerebrotendinous xanthomatosis (CTX) is a familial sterol storage disease based on an inborn error of metabolism …
303 results