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中国人自身免疫性多内分泌腺病综合征Ⅰ型2例报告 被引量:3

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出处 《中国医学科学院学报》 CAS CSCD 北大核心 2003年第1期105-106,共2页 Acta Academiae Medicinae Sinicae
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  • 1陈佩筠.多发性内分泌综合征二例报告[J].铁道医学,1980(2):68-69. 被引量:2
  • 2陆卫平,殷先德,郑立农.多发性内分泌机能减退症四例[J].南京医科大学学报(自然科学版),1995,15(3):737-737. 被引量:2
  • 3Neufeld M, Maclaren NK, Blizzard RM. Two types of autoimmune Addison ' s disease associated with different polyglandular autoimmune (PGA) syndromes. Medicine, 1981, 60:355-362.
  • 4Nagamine K, Peterson P, Scott HS, et al. Positional cloning of theAPECEDgene. Nat Genet, 1997, 17: 393-398.
  • 5Ishii T, Suzuki Y, Ando N, et al. Novel mutations of the autoimmune regulator gene in two siblings with autoimmune polyendocrinopathy eandidiasis-ectodermal dystrophy. J Clin Endocrinol Metab, 2000, 85: 2922 -2926.
  • 6Sato K, Nakajima K, Imamura H, et al. A novel missense mutation of AIRE gene in a patient with autoimmune polyendocrinopathy, candidiasis and ectodermal dystrophy (APECED), accompanied with progressive muscular atrophy: case report and review of the literature in Japan. Endocr J, 2002, 49: 625-633.
  • 7Kogawa K, Kudoh J, Nagafuchi S, et al. Distinct clinical phenotype and immunoreactivity in Japanese siblings with autoimmune polyglandular syndrome type 1 (APS-1) associated with compound heterozygous novel AIRE gene mutations. Clin Immunol, 2002, 103: 277-283.
  • 8Sato U, Horikawa R, Katsumata N, et al. Novel compound heterozygous AIRE mutations in a Japanese patient with APECED. J Pediatr Endocrinol Metab, 2004, 17:917-921.
  • 9Wolff AS, Erichsen MM, Meager A, et al. Autoimmune polyendocrine syndrome type 1 in Norway: phenotypie variation, autoantibodies, and novel mutations in the autoimmune regulator gene. J Clin Endocrinol Metab, 2007, 92: 595 -603.
  • 10史长宏 廖培元.自身免疫多腺体综合征Ⅰ型1例[J].中国实用儿科杂志,2000,15:326-326.

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