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1. 遺伝性運動失調の概要 overview of the hereditary ataxias
2. 成人における21－ヒドロキシラーゼ欠損症による古典的な先天性副腎皮質過形成の治療 treatment of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency in adults
3. 21－ヒドロキシラーゼ欠損症による古典的先天性副腎皮質過形成の遺伝学および臨床症状 genetics and clinical presentation of classic congenital adrenal hyperplasia due to 21 hydroxylase deficiency
4. 21－ヒドロキシラーゼ欠損症による非古典的（遅発性）先天性副腎皮質過形成の診断および治療 diagnosis and treatment of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency
5. 21－ヒドロキシラーゼ欠損症による非古典的（遅発性）先天性副腎皮質過形成の遺伝学および臨床症状 genetics and clinical presentation of nonclassic late onset congenital adrenal hyperplasia due to 21 hydroxylase deficiency

English Journal

Low vitamin D-modulated calcium-regulating proteins in psoriasis vulgaris plaques: S100A7 overexpression depends on joint involvement.

Cubillos S1, Norgauer J1.
International journal of molecular medicine.Int J Mol Med.2016 Oct;38(4):1083-92. doi: 10.3892/ijmm.2016.2718. Epub 2016 Aug 26.
Psoriasis is an inflammatory skin disease with or without joint involvement. In this disease, the thickened epidermis and impaired barrier are associated with altered calcium gradients. Calcium and vitamin D are known to play important roles in keratinocyte differentiation and bone metabolism. Intr
PMID 27573000

Cerebrotendinous xanthomatosis, a metabolic disease with different neurological signs: two case reports.

Di Taranto MD1, Gelzo M2, Giacobbe C2,3, Gentile M4, Marotta G4, Savastano S4, Dello Russo A2, Fortunato G2,3, Corso G5.
Metabolic brain disease.Metab Brain Dis.2016 Oct;31(5):1185-8. doi: 10.1007/s11011-016-9841-y. Epub 2016 May 26.
Cerebrotendinous xanthomatosis (CTX) is an autosomal recessive inborn error of bile acids synthesis and lipid accumulation caused by a deficiency of the mitochondrial cytochrome P450 sterol 27-hydroxylase enzyme encoded by CYP27A1. Pathogenic variants in CYP27A1 cause elevated cholestanol levels in
PMID 27225395

Resveratrol counters systemic lupus erythematosus-associated atherogenicity by normalizing cholesterol efflux.

Voloshyna I1, Teboul I2, Littlefield MJ2, Siegart NM2, Turi GK2, Fazzari MJ2, Carsons SE2, DeLeon J2, Reiss AB2.
Experimental biology and medicine (Maywood, N.J.).Exp Biol Med (Maywood).2016 Aug;241(14):1611-9. doi: 10.1177/1535370216647181. Epub 2016 Apr 27.
Resveratrol is a bioactive molecule used in dietary supplements and herbal medicines and consumed worldwide. Numerous investigations by our group and others have indicated cardioprotective and anti-inflammatory properties of resveratrol. The present study explored potential atheroprotective actions
PMID 27190277

Japanese Journal

Identification of a Novel Missense Mutation in the Sterol 27-Hydroxylase Gene in Two Japanese Patients with Cerebrotendinous Xanthomatosis

Internal Medicine 49(12), 1127-1131, 2010
NAID 130000251640

Hypocholesterolemic Mechanism of Chlorella : Chlorella and Its Indigestible Fraction Enhance Hepatic Cholesterol Catabolism through Up-Regulation of Cholesterol 7α-Hydroxylase in Rats

Bioscience, biotechnology, and biochemistry 71(4), 916-925, 2007-04-23
NAID 10027513400

Enhanced Susceptibility of LDL to Oxidative Modification in a CTX Patient:-Role of Chenodeoxycholic Acid in Xanthoma Formation-

Journal of Atherosclerosis and Thrombosis 11(3), 167-172, 2004
NAID 130004444106

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Chapter 17 : Amino Acid Oxidation and the Production of Urea Effect of Estrogen and Progesterone on the Expression of Hepatic and Extrahepatic Cerebrotendineuze xanthomatosis | Nederlands Tijdschrift voor Geneeskunde Sterol 27-hydroxylase Deficiency: A Rare Cause of Xanthomas in Normocholesterolemic Congenital Adrenal Hyperplasia: - ppt video online download Vitamin C | Basicmedical Key 17-hydroxylase deficiency | Student Doctor Network