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      KCI등재 SCOPUS SCIE

      성인에서 발견된 Albright 선천성 골이형성증을 동반하지 않은 가성부갑상선기능저하증 1예 = A Case of Pseudohypoparathyroidism without Albright's Hereditary Osteodystrophy in an Adult

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      https://www.riss.kr/link?id=A104733004

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      다국어 초록 (Multilingual Abstract)

      Pseudohypoparathyroidism is a rare disease caused by resistance to parathyroid hormone, and is associated with typical clinical typical symptoms such as tetany and seizures, hypocalcemia, hyperphosphatemia and increased parathyroid hormone levels. Pse...

      Pseudohypoparathyroidism is a rare disease caused by resistance to parathyroid hormone, and is associated with typical clinical typical symptoms such as tetany and seizures, hypocalcemia, hyperphosphatemia and increased parathyroid hormone levels. Pseudohypoparathyroidism is classified to Type Ia, Ib, Ic and II according to the clinical and biochemical manifestations. Type Ia and Ic have morphological characteristics called Albright's hereditary osteodystrophy. Type Ib differs from type II for the pathogenesis. Type Ib may~ receptors and type II may~ pathway, but the pathophysiology of type II is not clear yet. Administration of parathyroid hormone extract may help to distinguish between the two types. We report a case of a pseudohypoparathyroidism type Ib or II patient who had tetany, hypocalcemia and hyperphosphatemia with normal morphologic features.

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      참고문헌 (Reference)

      1 김영삼, "가성부갑상선기능저하증 I형 1예" 대한내분비학회 21 (21): 338-344, 2006

      2 Kang MH, "The variability of clinical and biochemical manifestation of pseudohypoparathyroidism" 28 : 103-108, 1985

      3 Albright F, "Pseudohypoparathyroidism: an example of the “Seabright-Bantam syndrome.”" 30 : 922-932, 1942

      4 Kang MI, "Pseudohypoparathyroidism type Ia and type II" 6 : 170-178, 1991

      5 Drezner M, "Pseudohypopara- thyroidism type II: a possible defect in the reception of the cyclic AMP signal" 289 : 1056-1060, 1973

      6 Barett D, "New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase" 257 : E277-E283, 1989

      7 Farfel Z, "Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency" 105 : 197-199, 1986

      8 Linglart A, "GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance" 87 : 189-197, 2002

      9 Bourne HR, "Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein" 53 : 636-640, 1981

      10 Farfel Z, "Deficient activity of receptor-cyclase coupling protein is transformed lymphoblasts of patients with pseudohypoparathyroidism, type I" 55 : 113-117, 1982

      1 김영삼, "가성부갑상선기능저하증 I형 1예" 대한내분비학회 21 (21): 338-344, 2006

      2 Kang MH, "The variability of clinical and biochemical manifestation of pseudohypoparathyroidism" 28 : 103-108, 1985

      3 Albright F, "Pseudohypoparathyroidism: an example of the “Seabright-Bantam syndrome.”" 30 : 922-932, 1942

      4 Kang MI, "Pseudohypoparathyroidism type Ia and type II" 6 : 170-178, 1991

      5 Drezner M, "Pseudohypopara- thyroidism type II: a possible defect in the reception of the cyclic AMP signal" 289 : 1056-1060, 1973

      6 Barett D, "New form of pseudohypoparathyroidism with abnormal catalytic adenylate cyclase" 257 : E277-E283, 1989

      7 Farfel Z, "Mental deficiency in pseudohypoparathyroidism type I is associated with Ns-protein deficiency" 105 : 197-199, 1986

      8 Linglart A, "GNAS1 lesions in pseudohypoparathyroidism Ia and Ic: genotype phenotype relationship and evidence of the maternal transmission of the hormonal resistance" 87 : 189-197, 2002

      9 Bourne HR, "Fibroblast defect in pseudohypoparathyroidism, type I: reduced activity of receptor-cyclase coupling protein" 53 : 636-640, 1981

      10 Farfel Z, "Deficient activity of receptor-cyclase coupling protein is transformed lymphoblasts of patients with pseudohypoparathyroidism, type I" 55 : 113-117, 1982

      11 Farfel Z, "Deficient activity of receptor -cyclase coupling protein in platelets of patients with pseudohypoparathyroidism" 51 : 1202-1204, 1980

      12 Farfel Z, "Defect of receptor-cyclase coupling protein in pseudohypoparathyroidism" 303 : 237-242, 1980

      13 Spiegel AM, "Clinical implications of guanine nucleotide-binding proteins as receptor-effector couplers" 312 : 26-33, 1985

      14 Fukumoto S, "Causes and differential diagnosis of hypocalcemia--recommendation proposed by expert panel supported by Ministry of Health, Labour and Welfare, Japan" 55 : 787-794, 2008

      15 Levine MA, "Activity of the stimulatory guanine nucleotide -binding protein is reduced in erythrocytes from patients with pseudohypoparathyroidism and pseudopseudohypo- parathyroidism: biochemical, endocrine, and genetic analysis of Albright's hereditary osteodystrophy in six kindreds" 62 : 497-502, 1986

      16 Ko BG, "A case of pseudohypoparathyroidism with atypical feature of Albright's hereditary osteodystrophy" 31 : 130-135, 1986

      17 Kim EY, "A case of pseudohypoparathyroidism type II 1" 39 : 1326-1330, 1996

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      학술지 이력

      학술지 이력
      연월일 이력구분 이력상세 등재구분
      2023 평가예정 해외DB학술지평가 신청대상 (해외등재 학술지 평가)
      2020-01-01 평가 등재학술지 유지 (해외등재 학술지 평가) KCI등재
      2013-12-16 학술지명변경 한글명 : 대한내분비학회지 -> Endocrinology and Metabolism
      외국어명 : Endocrinology and Metabolism -> 미등록
      KCI등재
      2013-01-01 평가 등재 1차 FAIL (등재유지) KCI등재
      2010-06-28 학술지명변경 외국어명 : Journal of Korean Endocrin Society -> Endocrinology and Metabolism KCI등재
      2010-01-01 평가 등재학술지 유지 (등재유지) KCI등재
      2007-06-05 학회명변경 영문명 : The Korean Society Of Endocrinology -> Korean Endocrin Society KCI등재
      2007-06-01 학술지명변경 외국어명 : Journal of Korean Society of Endocrinology -> Journal of Korean Endocrin Society KCI등재
      2007-01-01 평가 등재학술지 선정 (등재후보2차) KCI등재
      2006-01-01 평가 등재후보 1차 PASS (등재후보1차) KCI등재후보
      2004-01-01 평가 등재후보학술지 선정 (신규평가) KCI등재후보
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      학술지 인용정보

      학술지 인용정보
      기준연도 WOS-KCI 통합IF(2년) KCIF(2년) KCIF(3년)
      2016 0.23 0.23 0.26
      KCIF(4년) KCIF(5년) 중심성지수(3년) 즉시성지수
      0.23 0.22 0.508 0.08
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