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2)Ju Y, Mizutani T, Imamichi Y, et al. Nuclear receptor 5A(NR5A) family regulates 5-aminolevulinic acid synthase 1(ALAS1) gene expression in steroidogenic cells. Endocrinology. 2012; 153: 5522-34
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6)Meimaridou E, Kowalczyk J, Guasti L, et al. Mutations in NNT encoding nic- otinamide nucleotide transhydrogenase cause familial glucocorticoid deficiency. Nat Genet. 2012; 44: 740-2
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7)Yamaguchi R, Kato F, Hasegawa T. A novel homozygous mutation of the nicotinamide nucleotide transhydrogenase gene in a Japanese patient with familial glucocorticoid deficiency. Endocr J. 2013; 60: 855-9
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8)Prasad R, Chan LF, Hughes CR, et al. Thioredoxin reductase 2 (TXNRD2) mutation associated with familial glucocorticoid deficiency (FGD). J Clin Endocrinol Metab. 2014: jc20133844. [Epub ahead of print]
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9)Arboleda VA, Lee H, Parnaik R, et al. Mutations in the PCNA-binding domain of CDKN1C cause IMAGe syndrome. Nature. Genetics 2012; 44: 788-92
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10)Kato F, Hamajima T, Hasegawa T, et al. Image syndrome: Clinical and genetic implications based on investigations in three Japanese patients. Clin Endocrinol(Oxf). 2014; 80: 706-13
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13)副腎クリーゼを含む副腎皮質機能低下症の診断と治療に関する指針 http://square.umin.ac. jp/endocrine/hottopics/20140311sinryousisin.pdf 日本内分泌学会HP
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19)Kazlauskaite R, Evans AT, Villabona CV, et al. Corticotropin tests for hypothalamic-pituitary- adrenal insufficiency: a metaanalysis. J Clin Endocrinol Metab. 2008; 93: 4245-53
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21)Bleicken B, Hahner S, Loeffler M, et al. Influence of hydrocortisone dosage scheme on health-related quality of life in patients with adrenal insufficiency. Clin Endocrinol. 2010; 72: 297-304
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22)Debono M, Ghobadi C, Rostami-Hodjegan A, et al. Modified-release hydrocortisone to provide circadian cortisol profiles. J Clin Endocrinol Metab. 2009; 94: 1548-54
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23)Verma S, Vanryzin C, Sinaii N, et al. A, pharmacokinetic and pharmacodynamic study of delayed- and extended-release hydrocortisone (Chronocort) vs. conventional hydrocortisone (Cortef) in the treatment of congenital adrenal hyperplasia. Clin Endocrinol(Oxf). 2010; 72: 441-7
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24)Johannsson G, Nilsson AG, Bergthorsdottir R, et al. Improved cortisol exposure-time profile and outcome in patients with adrenal insufficiency: a prospective randomized trial of a novel hydrocortisone dual-release formulation. J Clin Endocrinol Metab. 2012; 97: 473-81
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