New type-4 D-bifunctional protein deficiency caused by compound heterozygous mutation of hydroxysteroid 17-beta dehydrogenase 4 (HSD17B4)

被引:0
|
作者
McMillan, H. J.
Worthylake, T.
Geraghty, M.
Bulman, D.
Gottlieb, C.
Coupand, S.
Lawrence, S.
Boycott, K. M.
机构
[1] Childrens Hosp Eastern Ontario, Ottawa, ON K1H 8L1, Canada
[2] Ottawa Eye Inst, Ottawa, ON, Canada
关键词
D O I
暂无
中图分类号
R74 [神经病学与精神病学];
学科分类号
摘要
引用
收藏
页码:S43 / S43
页数:1
相关论文
共 44 条
  • [21] Polymorphisms in genes hydroxysteroid-dehydrogenase-17b type 2 and type 4 and endometrial cancer risk
    Karageorgi, Stalo
    McGrath, Monica
    Lee, I-Min
    Buring, Julie
    Kraft, Peter
    De Vivo, Immaculata
    GYNECOLOGIC ONCOLOGY, 2011, 121 (01) : 54 - 58
  • [22] Expression and regulation of aromatase and 17 beta-hydroxysteroid dehydrogenase type 4 in human THP 1 leukemia cells
    Jakob, F
    Homann, D
    Adamski, J
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 1995, 55 (5-6): : 555 - 563
  • [23] Synthesis, biochemical evaluation and rationalisation of the inhibitory activity of a series of 4-hydroxyphenyl ketones as potential inhibitors of 17β-hydroxysteroid dehydrogenase type 3 (17β-HSD3)
    Lota, Rupinder K.
    Dhanani, Sachin
    Owen, Caroline P.
    Ahmed, Sabbir
    BIOORGANIC & MEDICINAL CHEMISTRY LETTERS, 2006, 16 (17) : 4519 - 4522
  • [24] Synthesis, biochemical evaluation and rationalisation of the inhibitory activity of a range of 4-hydroxyphenyl ketones as potent and specific inhibitors of the type 3 of 17β-hydroxysteroid dehydrogenase (17β-HSD3)
    Lota, Rupinder K.
    Olusanjo, Moniola S.
    Dhanani, Sachin
    Owen, Caroline P.
    Ahmed, Sabbir
    JOURNAL OF STEROID BIOCHEMISTRY AND MOLECULAR BIOLOGY, 2008, 111 (1-2): : 128 - 137
  • [25] Disorder of Sex Development Due to 17-Beta-Hydroxysteroid Dehydrogenase Type 3 Deficiency: A Case Report and Review of 70 Different HSD17B3 Mutations Reported in 239 Patients
    Goncalves, Catarina, I
    Carrico, Josianne
    Bastos, Margarida
    Lemos, Manuel C.
    INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2022, 23 (17)
  • [26] ANDROGENIC 17-BETA-HYDROXYSTEROID DEHYDROGENASE-ACTIVITY OF EXPRESSED RAT TYPE-I 3-BETA-HYDROXYSTEROID DEHYDROGENASE/DELTA-5-DELTA-4 ISOMERASE
    DELAUNOIT, Y
    SIMARD, J
    DUROCHER, F
    LABRIE, F
    ENDOCRINOLOGY, 1992, 130 (01) : 553 - 556
  • [27] Synthesis and Biological Evaluation of 17β-Hydroxysteroid Dehydrogenase Type 1 (17β-HSD1) Inhibitors Based on a Thieno[2,3-d]pyrimidin-4(3H)-one Core
    Lilienkampf, Annamaria
    Karkola, Sampo
    Alho-Richmond, Sari
    Koskimies, Pasi
    Johansson, Nina
    Huhtinen, Kaisa
    Vihko, Kimmo
    Wahala, Kristiina
    JOURNAL OF MEDICINAL CHEMISTRY, 2009, 52 (21) : 6660 - 6671
  • [28] An Artemisinin Derivative ART1 Induces Ferroptosis by Targeting the HSD17B4 Protein Essential for Lipid Metabolism and Directly Inducing Lipid Peroxidation
    Xie, Jingjing
    Zhu, Guangya
    Gao, Ming
    Xi, Jie
    Chen, Ge
    Ma, Xinxin
    Yan, Yu
    Wang, Zhiyuan
    Xu, Ze-Jun
    Chen, Hui-Jun
    Hao, Hong-Dong
    Zhang, Yaoyang
    Yao, Zhu-Jun
    Zhu, Jidong
    CCS CHEMISTRY, 2022, 4 (01): : 304 - 317
  • [29] A NEW HETEROZYGOUS MUTATION IN TYPE-II 3-BETA-HYDROXYSTEROID DEHYDROGENASE (3-BETA-HSD) GENE CAUSING SALT-WASTING 3-DELTA-HSD DEFICIENCY CONGENITAL ADRENAL-HYPERPLASIA (CAH)
    ZHANG, L
    ALKADDOUR, HS
    CHANG, YT
    YANG, XJ
    PANG, SY
    PEDIATRIC RESEARCH, 1995, 37 (04) : A102 - A102