Similar articles for PMID: 20301583

Year	Number of Results
1991	1
1993	56
1996	1
1999	4
2000	5
2001	3
2002	4
2003	4
2004	3
2005	3
2006	4
2007	2
2008	4
2009	2
2010	2
2011	2
2012	3
2013	3
2014	5
2015	2
2016	4
2017	9
2018	7
2019	7
2020	5
2021	18
2022	17
2023	20
2024	12

1

Federico A, Gallus GN. Federico A, et al. 2003 Jul 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Jul 16 [updated 2022 Mar 17]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301583 Free Books & Documents. Review.

2

Cerebrotendinous xanthomatosis associated with immune thrombocytopenia.

El Husseiny NM. El Husseiny NM. BMJ Case Rep. 2010 Nov 5;2010:bcr0220102736. doi: 10.1136/bcr.02.2010.2736. BMJ Case Rep. 2010. PMID: 22791847 Free PMC article.

3

Familial Hypercholesterolemia.

Ison HE, Clarke SL, Knowles JW. Ison HE, et al. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2014 Jan 2 [updated 2022 Jul 7]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 24404629 Free Books & Documents. Review.

4

Combined treatment with chenodeoxycholic acid and pravastatin improves plasma cholestanol levels associated with marked regression of tendon xanthomas in cerebrotendinous xanthomatosis.

Nakamura T, Matsuzawa Y, Takemura K, Kubo M, Miki H, Tarui S. Nakamura T, et al. Metabolism. 1991 Jul;40(7):741-6. doi: 10.1016/0026-0495(91)90094-d. Metabolism. 1991. PMID: 1908036

5

Differing clinical features between Japanese siblings with cerebrotendinous xanthomatosis with a novel compound heterozygous CYP27A1 mutation: a case report.

Koyama S, Okabe Y, Suzuki Y, Igari R, Sato H, Iseki C, Tanji K, Suzuki K, Ohta Y. Koyama S, et al. BMC Neurol. 2022 May 25;22(1):193. doi: 10.1186/s12883-022-02711-4. BMC Neurol. 2022. PMID: 35614401 Free PMC article.

6

Cerebrotendinous Xanthomatosis: Molecular Pathogenesis, Clinical Spectrum, Diagnosis, and Disease-Modifying Treatments.

Koyama S, Sekijima Y, Ogura M, Hori M, Matsuki K, Miida T, Harada-Shiba M. Koyama S, et al. J Atheroscler Thromb. 2021 Sep 1;28(9):905-925. doi: 10.5551/jat.RV17055. Epub 2021 May 8. J Atheroscler Thromb. 2021. PMID: 33967188 Free PMC article.

7

Megalencephalic Leukoencephalopathy with Subcortical Cysts.

Min R, Abbink TEM, van der Knaap MS. Min R, et al. 2003 Aug 11 [updated 2023 Jul 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2003 Aug 11 [updated 2023 Jul 27]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 20301707 Free Books & Documents. Review.

8

Cerebrotendinous xanthomatosis: a comprehensive review of pathogenesis, clinical manifestations, diagnosis, and management.

Nie S, Chen G, Cao X, Zhang Y. Nie S, et al. Orphanet J Rare Dis. 2014 Nov 26;9:179. doi: 10.1186/s13023-014-0179-4. Orphanet J Rare Dis. 2014. PMID: 25424010 Free PMC article. Review.

9

A case of Cerebrotendinous Xanthomatosis with spinal cord involvement and without tendon xanthomas: identification of a new mutation of the CYP27A1 gene.

Gelzo M, Di Taranto MD, Bisecco A, D'Amico A, Capuano R, Giacobbe C, Caputo M, Cirillo M, Tedeschi G, Fortunato G, Corso G. Gelzo M, et al. Acta Neurol Belg. 2021 Apr;121(2):561-566. doi: 10.1007/s13760-019-01267-4. Epub 2019 Dec 24. Acta Neurol Belg. 2021. PMID: 31875301

10

Aromatic L-Amino Acid Decarboxylase Deficiency.

Blau N, Pearson TS, Kurian MA, Elsea SH. Blau N, et al. 2023 Oct 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. 2023 Oct 12. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews^® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024. PMID: 37824694 Free Books & Documents. Review.

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