Zobrazeno 1 - 10
of 880
pro vyhledávání: '"lipoid congenital adrenal hyperplasia"'
Autor:
Bakkar, Ayman A1 (AUTHOR), Alsaedi, Abdulaziz1 (AUTHOR), Kamal, Naglaa M2 (AUTHOR) nagla.kamal@medicine.cu.edu.eg, Althobaiti, Enad1 (AUTHOR), Aboulkhair, Lujain A3 (AUTHOR), Almalki, Abdullah M1 (AUTHOR), Alsalmi, Shaima A1 (AUTHOR), Alharthi, Qaydah4 (AUTHOR), Abosabie, Sara A5 (AUTHOR), Abosabie, Salma AS6 (AUTHOR)
Publikováno v:
Clinical Medicine Insights: Endocrinology & Diabetes. 1/1/2023, Vol. 16, p1-6. 6p.
Publikováno v:
Frontiers in Genetics, Vol 14 (2023)
Objective: Congenital lipid adrenal hyperplasia (LCAH) is the most serious type of congenital adrenal hyperplasia and is caused by steroid-based acute regulatory (STAR) protein mutations. Herein, we report compound heterozygous mutations c.558C>A (p.
Externí odkaz:
https://doaj.org/article/07a4cc8dd5654d3e848f082e3c6da7b0
Autor:
Wenli Lu, Tingting Zhang, Lidan Zhang, Xueqing Wang, Sheng Lv, Junqi Wang, Lei Ye, Yuan Xiao, Zhiya Dong, Wei Wang, Shuoyue Sun, Chuanyin Li, Ronggui Hu, Guang Ning, Xiaoyu Ma
Publikováno v:
Frontiers in Endocrinology, Vol 13 (2022)
BackgroundLipoid congenital adrenal hyperplasia (LCAH) is a rare and severe disorder that is caused by mutations in the steroidogenic acute regulatory protein (StAR). Non-classic LCAH is defined as late-onset glucocorticoid deficiency and even comple
Externí odkaz:
https://doaj.org/article/0ed0935af261417d817feeb5e127de0e
Akademický článek
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Akademický článek
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Autor:
Chen, Hong, Zhang, Qianru, Chen, Ruimin *, Yuan, Xin, Lin, Xiangquan, Yang, Xiaohong, Zhang, Ying
Publikováno v:
In Journal of Steroid Biochemistry and Molecular Biology June 2020 200
Autor:
Ayman A Bakkar, Abdulaziz Alsaedi, Naglaa M Kamal, Enad Althobaiti, Lujain A Aboulkhair, Abdullah M Almalki, Shaima A Alsalmi, Qaydah Alharthi, Sara A Abosabie, Salma AS Abosabie
Publikováno v:
Clinical Medicine Insights: Endocrinology and Diabetes, Vol 16 (2023)
Lipoid congenital adrenal hyperplasia (LCAH) is characterized by disturbance of adrenal and gonadal steroidogenesis (OMIM:201710). It is caused by mutation in the Steroidogenic Acute Regulatory Protein (StAR). We report a classic case of LCAH in a ne
Externí odkaz:
https://doaj.org/article/fb401882ba5045378eb90a8dd714cbca
Publikováno v:
Journal of Babol University of Medical Sciences. 2021, Vol. 23 Issue 1, p119-125. 7p.
Publikováno v:
Majallah-i Dānishgāh-i ̒Ulūm-i Pizishkī-i Bābul, Vol 23, Iss 1, Pp 119-125 (2021)
BACKGROUND AND OBJECTIVE: Lipoid congenital adrenal hyperplasia (LCAH) is the most severe form of adrenal hyperplasia and mutations in the StAR gene are the most common cause of the disease. Adrenal insufficiency and cholestasis are reported in few p
Externí odkaz:
https://doaj.org/article/ce8e92a798b04d9b89a6450623cf94b6
Autor:
Moritake Higa, Akiko Zaha, Akiko Takushi, Nami Morishima, Toyofumi Majikina, Takeshi Touma, Michio Shimabukuro, Hiroaki Masuzaki, Misa Honda, Tomonobu Hasegawa
Publikováno v:
Human Genome Variation, Vol 8, Iss 1, Pp 1-4 (2021)
Abstract We report the first case of classic lipoid congenital adrenal hyperplasia and combined pituitary hormone deficiency. We identified pathogenic variants in the STAR gene: a novel variant of c.126_127delCCinsG, namely, p.Thr44Profs*2 and an alr
Externí odkaz:
https://doaj.org/article/dbb7033bf20a44019ffd1d61439e6033