Zobrazeno 1 - 10
of 108
pro vyhledávání: '"Congenital Lipoid Adrenal Hyperplasia"'
Autor:
Hosun Bae, Min-Sun Kim, Hyojung Park, Ja-Hyun Jang, Jong-Moon Choi, Sae-Mi Lee, Sung Yoon Cho, Dong-Kyu Jin
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 1, Pp 46-51 (2020)
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the dise
Externí odkaz:
https://doaj.org/article/8ca4728abf0f48f2a0fb93e9820058cc
Autor:
Kanako Matsuoka, Yuichi Sato, Seiji Hoshi, Tomoyuki Koguchi, Soichiro Ogawa, Tomohiro Ishii, Nobuhiro Haga, Tomonobu Hasegawa, Yoshiyuki Kojima
Publikováno v:
IJU Case Reports, Vol 3, Iss 2, Pp 53-56 (2020)
Introduction Congenital lipoid adrenal hyperplasia is a rare disease that causes disorders of sex development. The 46,XY patient presents with female external genitalia and inguinal testes. We describe the case of a patient with congenital lipoid adr
Externí odkaz:
https://doaj.org/article/d65385c5cb674d188ce55956cd613f62
Akademický článek
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Autor:
Xiu Zhao, Zhe Su, Xia Liu, Jianming Song, Yungen Gan, Pengqiang Wen, Shoulin Li, Li Wang, Lili Pan
Publikováno v:
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-10 (2018)
Abstract Background Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal gl
Externí odkaz:
https://doaj.org/article/c2cf1ee8097b4e7cae3512a88e271539
Autor:
Claire Goursaud, Delphine Mallet, Alexandre Janin, Rita Menassa, Véronique Tardy-Guidollet, Gianni Russo, Anne Lienhardt-Roussie, Claudine Lecointre, Ingrid Plotton, Yves Morel, Florence Roucher-Boulez
Publikováno v:
Frontiers in Endocrinology, Vol 9 (2018)
Context: The cholesterol side chain cleavage enzyme (CYP11A1) catalyzes the conversion of cholesterol to pregnenolone, the first rate-limiting step of steroidogenesis. CYP11A1 mutations are associated with primary adrenal insufficiency (PAI) as well
Externí odkaz:
https://doaj.org/article/e5cd13ccfccc43d78d39643050862b98
Autor:
Dong-Kyu Jin, Sae-Mi Lee, Sung Yoon Cho, Ja-Hyun Jang, Hyo Jung Park, Jong-Moon Choi, Hosun Bae, Min-Sun Kim
Publikováno v:
Annals of Pediatric Endocrinology & Metabolism, Vol 25, Iss 1, Pp 46-51 (2020)
Annals of Pediatric Endocrinology & Metabolism
Annals of Pediatric Endocrinology & Metabolism
Congenital lipoid adrenal hyperplasia (CLAH) is one of the most fatal conditions caused by an abnormality of adrenal and gonadal steroidogenesis. CLAH results from loss-of-function mutations of the steroidogenic acute regulatory (STAR) gene; the dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::78d7b356f74f19ee83a9b44896057429
http://e-apem.org/upload/pdf/apem-2020-25-1-46.pdf
http://e-apem.org/upload/pdf/apem-2020-25-1-46.pdf
Autor:
Zhe Su, Yungen Gan, Shoulin Li, Pengqiang Wen, Xia Liu, Lili Pan, Jianming Song, Li Wang, Xiu Zhao
Publikováno v:
BMC Endocrine Disorders, Vol 18, Iss 1, Pp 1-10 (2018)
BMC Endocrine Disorders
BMC Endocrine Disorders
Background Congenital lipoid adrenal hyperplasia (CLAH) is an extremely rare and the most severe form of congenital adrenal hyperplasia. Typical features include disorder of sex development, early-onset adrenal crisis and enlarged adrenal glands with
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9e8060c5e98426d602d4bf2ed642ec66
http://link.springer.com/article/10.1186/s12902-018-0307-6
http://link.springer.com/article/10.1186/s12902-018-0307-6
Akademický článek
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Autor:
Walter L. Miller
Publikováno v:
Molecular and Cellular Endocrinology. 441:2-6
Douglas M. (Doug) Stocco is Professor Emeritus at Texas Tech University Health Sciences Center in Lubbock, TX, and is internationally renowned for his work characterizing the steroidogenic acute regulatory protein, StAR. Stocco's laboratory isolated
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::345f86d7cb47a3629e695b13ae47e836
https://doi.org/10.1016/j.mce.2016.06.024
https://doi.org/10.1016/j.mce.2016.06.024
Akademický článek
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