본문 바로가기 주메뉴 바로가기
22대 대한민국 국회 국회정보길라잡이 국회의원검색
회원가입 로그인
HOME

정보검색

소장정보 검색

국회도서관 홈으로 정보검색 소장정보 검색

결과 내 검색

동의어 포함

고급검색

인명/단체명

저자정보 상세정보
인명/단체명을 입력하세요.

키워드

  • 대표어

  • 외국어

-

초록보기

Congenital lipoid adrenal hyperplasia (CLAH) is caused by mutations to the steroidogenic acute regulatory protein (StAR) gene associated with the inability to synthesize all adrenal and gonadal steroids. Inadequate treatment in an infant with this condition may result in sudden death from an adrenal crisis. We report a case in which CLAH developed in Korean siblings; the second child was prenatally diagnosed because the first child was affected and low maternal serum estriol was detected in a prenatal screening test. To our knowledge, this is the first prenatal diagnosis of the Q258X StAR mutation, which is the only consistent genetic cluster identified to date in Japanese and Korean populations.

권호기사

권호기사 목록 테이블로 기사명, 저자명, 페이지, 원문, 기사목차 순으로 되어있습니다.
기사명 저자명 페이지 원문 목차
Clinical implications of chemokines in acute and chronic hepatitis C virus infection Wonseok Kang, Eui-Cheol Shin pp.871-878

Multidrug-resistant Acinetobacter spp. : increasingly problematic nosocomial pathogens Kyungwon Lee, Dongeun Yong, Seok Hoon Jeong, Yunsop Chong pp.879-891

Glutamine as an immunonutrient Hyeyoung Kim pp.892-897

Hypoglycemia revisited in the acute care setting Shih-Hung Tsai, Yen-Yue Lin, Chin-Wang Hsu, Chien-Sheng Cheng, Der-Ming Chu pp.898-908

Anemia in elderly Koreans Jong Hwa Lee pp.909-913

Association of lipoprotein-associated phospholipase A₂with characteristics of vulnerable coronary atherosclerotic plaques Yu-Sheng Liu, Xiao-Bo Hu, Hong-Zhuan Li, Wei-Dong Jiang, Xin Wang, Hao Lin, Ai-Qiong Qin, Yong-Mei Wang, Tong Zhao, Zhao-Qiang Dong … [et al.] pp.914-922

Comparison of bypass surgery with drug-eluting stents in diabetic patients with left main coronary stenosis Xiaoxiao Zhao, Yujie Zhou, Hui Song, Like Guan, Guanbin Zheng, Zhehu Jin, Dongmei Shi, Yuzi Li, Yonghe Guo, Guo-Ping Shi … [et al.] pp.923-932

(The)assessment of routine electroencephalography in patients with altered mental status Kwon Duk Seo, Young-Chul Choi, Won-Joo Kim pp.933-938

Parameters measuring beta-cell function are only valuable in diabetic subjects with low body mass index, high blood glucose level, or long-standing diabetes Seung Won Lee, Sangheun Lee, Se Hwa Kim, Tae Ho Kim, Byung Soo Kang, Seung Hoon Yoo, Min Kyung Lee, Won Jun Koh, Won Sik Kang, Hyeong Jin Kim pp.939-947

Gender differences in relationship between fat-free mass index and fat mass index among Korean children using body composition chart HyeongGeun Park, KeeHo Park, Myung Hyun Kim, Gyo Sun Kim, Sochung Chung pp.948-952

(The)association of SERPINE2 gene with COPD in a Chinese Han population Aihua Wang, Yingqiu Yin, Ping Chen, Qiji Liu, Qinfeng Yu, Wei Xiao pp.953-960

Comparative study of complete and partial omentectomy in radical subtotal gastrectomy for early gastric cancer Min-Chan Kim, Ki-Han Kim, Ghap Joong Jung, David W. Rattner pp.961-966

Soluble human leukocyte antigen G level in fluid from single dominant follicle and the association with oocyte competence Byung Chul Jee, Chang Suk Suh, Seok Hyun Kim, Shin Yong Moon pp.967-971

Artificial external glottic device for passive lung insufflation Dong Hyun Kim, Seong-Woong Kang, Yoon Ghil Park, Won Ah Choi, Hye Ree Lee pp.972-976

Effects of music therapy on mood in stroke patients Dong Soo Kim, Yoon Ghil Park, Jung Hwa Choi, Sang-Hee Im, Kang Jae Jung, Young A Cha, Chul Oh Jung, Yeo Hoon Yoon pp.977-981

(The)effects of heat and massage application on autonomic nervous system Young-Hee Lee, Bit Na Ri Park, Sung Hoon Kim pp.982-989

Immunotherapy of malignant melanoma with tumor lysate-pulsed autologous monocyte-derived dendritic cells Dae Suk Kim, Dong Hyun Kim, Boncheol Goo, Young Hun Cho, Jin Mo Park, Tae Hyung Lee, Hyun Ok Kim, Han-Soo Kim, Hyunah Lee, Jong Doo Lee … [et al.] pp.990-998

Rapid isolation of adipose tissue-derived stem cells by the storage of lipoaspirates Young Woo Eom, Jong Eun Lee, Mal Sook Yang, In Keun Jang, Hyo Eun Kim, Doo Hoon Lee, Young Jin Kim, Won Jin Park, Jee Hyun Kong, Kwang Yong Shim … [et al.] pp.999-1007

Co-immunization of plasmid DNA encoding IL-12 and IL-18 with Bacillus Calmette-Guérin vaccine against progressive tuberculosis Bo-Young Jeon, Hyungjin Eoh, Sang-Jun Ha, Hyeeun Bang, Seung-Cheol Kim, Young-Chul Sung, Sang-Nae Cho pp.1008-1015

Analgesic mechanism of electroacupuncture in an arthritic pain model of rats : a neurotransmitter study Young-Chul Yoo, Jin Hwan Oh, Tae Dong Kwon, Yeong Kyu Lee, Sun Joon Bai pp.1016-1021

Successful catheter ablation of focal automatic left ventricular tachycardia presented with tachycardia-mediated cardiomyopathy Hee-Woo Lee, Jin-Bae Kim, Boyoung Joung, Moon-Hyoung Lee, Sung-Soon Kim pp.1022-1024

Fever-induced QTc prolongation and ventricular fibrillation in a healthy young man Sun Min Lim, Hui-Nam Pak, Moon-Hyoung Lee, Sung Soon Kim, Boyoung Joung pp.1025-1027

(A)newly formed and ruptured atheromatous plaque within neointima after drug-eluting stent implantation : 2-year follow-up intravascular ultrasound and optical coherence tomography studies Chang-Myung Oh, Jeonggeun Moon, Hee Tae Yu, Ji-Yong Jang, Jung-Sun Kim, Young-Guk Ko, Donghoon Choi, Yangsoo Jang, Myeong-Ki Hong pp.1028-1030

Combination therapy with rituximab and temozolomide for recurrent and refractory primary central nervous system lymphoma Mineko Murakami, Takamitsu Fujimaki, Shuichiro Asano, Hiroshi Nakaguchi, Shoko M. Yamada, Katsumi Hoya, Kazuto Yamazaki, Yasuo Ishida, Akira Matsuno pp.1031-1034

Prenatal diagnosis of congenital lipoid adrenal hyperplasia(CLAH) by molecular genetic testing in Korean siblings Hyun Sun Ko, Seungok Lee, Hyojin Chae, Sae Kyung Choi, Myungshin Kim, In Yang Park, Byung Kyu Suh, Jong Chul Shin pp.1035-1038

(A)case of a shiga toxin producing Escherichia Coli Seung-Hak Cho, Jung-Beom Kim, Yong-Bae Park, Mi-Sun Park, Hiun Suk Chae, Hae Kyung Lee pp.1039-1043

Frontal sinus lymphoma presenting as progressive multiple cranial nerve palsy Kyubo Kim, Min Ju Kim, Sanghyeon Ahn, So Young Bae, Won Seog Kim, Joo-Heon Yoon pp.1044-1047

참고문헌 (17건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Steroidogenic acute regulatory protein (StAR), a novel mitochondrial cholesterol transporter 네이버 미소장
2 Prenatal diagnosis of congenital lipoid adrenal hyperplasia (CLAH) by estriol amniotic fluid analysis and molecular genetic testing 네이버 미소장
3 Role of Steroidogenic Acute Regulatory Protein in Adrenal and Gonadal Steroidogenesis 네이버 미소장
4 Mutations in the steroidogenic acute regulatory protein (StAR) in six patients with congenital lipoid adrenal hyperplasia. 네이버 미소장
5 Analysis of the Steroidogenic Acute Regulatory Protein (StAR) Gene in Japanese Patients with Congenital Lipoid Adrenal Hyperplasia 네이버 미소장
6 Molecular and Clinical Characterization of Korean Patients with Congenital Lipoid Adrenal Hyperplasia 네이버 미소장
7 The pathophysiology and genetics of congenital lipoid adrenal hyperplasia. 네이버 미소장
8 Second Trimester Serum Markers 네이버 미소장
9 Assigning risk for Smith-Lemli-Opitz syndrome as part of 2nd trimester screening for Down's syndrome 네이버 미소장
10 Prenatal detection of X-linked ichthyosis by maternal serum screening for Down syndrome. 네이버 미소장
11 CHOLESTEROL AND DEVELOPMENT: THE RSH ("SMITH-LEMLI-OPITZ") SYNDROME AND RELATED CONDITIONS 네이버 미소장
12 Estrogen: consequences and implications of human mutations in synthesis and action. 네이버 미소장
13 Pathophysiology on the threshold of a new century 네이버 미소장
14 Prenatal diagnosis of congenital lipoid adrenal hyperplasia 네이버 미소장
15 Congenital hypopituitarism as a cause of undetectable estriol levels in the maternal triple-marker screen. 네이버 미소장
16 Congenital X-linked adrenal hypoplasia. 네이버 미소장
17 Clinical and functional effects of mutations in the DAX-1 gene in patients with adrenal hypoplasia congenita. 네이버 미소장

추천서가 (다양한 추천 자료를 만나보세요)

권호기사보기

권호기사 목록 테이블로 기사명, 저자명, 페이지, 원문, 기사목차 순으로 되어있습니다.
기사명 저자명 페이지 원문 기사목차

권호

기사명 원문보기 기사목차
닫기