医学名词词典
文献检索
全文求助
焦点文献
我的词汇本
我要上传名词
个人中心
登录
|
注册
首页
>
按专业查询名词
> 查询PubMed相关文献
返回上一级
名词信息
中 文 名:
硫酸酯酶缺乏症
英 文 名:
sulfatase deficiency
中文又称:
中文曾称:
名词来源:
所属专业:
内分泌科
所属类别:
临床检查名词
加入我的词汇本
Pubmed相关的文献
sulfatase deficiency
相关文献:
Multiple Sulfatase Deficiency: A Disease Comprising Mucopolysaccharidosis, Sphingolipidosis, and More Caused by a Defect in Posttranslational Modification.
Schlotawa L, Adang LA, Radhakrishnan K, Ahrens-Nicklas RC.
Int J Mol Sci. 2020 May 13;21(10):3448. doi: 10.3390/ijms21103448.
PMID:32414121
Steroid sulfatase deficiency.
Shapiro LJ, Cousins L, Fluharty AL, Stevens RL, Kihara H.
Pediatr Res. 1977 Aug;11(8):894-7. doi: 10.1203/00006450-197708000-00008.
PMID:887310
Drug screening identifies tazarotene and bexarotene as therapeutic agents in multiple sulfatase deficiency.
Schlotawa L, Tyka K, Kettwig M, Ahrens-Nicklas RC, Baud M, Berulava T, Brunetti-Pierri N, Gagne A, Herbst ZM, Maguire JA, Monfregola J, Pena T, Radhakrishnan K, Schröder S, Waxman EA, Ballabio A, Dierks T, Fischer A, French DL, Gelb MH, Gärtner J.
EMBO Mol Med. 2023 Mar 8;15(3):e14837. doi: 10.15252/emmm.202114837. Epub 2023 Feb 15.
PMID:36789546
Multiple sulfatase deficiency.
Soong BW, Casamassima AC, Fink JK, Constantopoulos G, Horwitz AL.
Neurology. 1988 Aug;38(8):1273-5. doi: 10.1212/wnl.38.8.1273.
PMID:2899861
Neonatal multiple sulfatase deficiency with a novel mutation and review of the literature.
Nur BG, Mıhçı E, Pepe S, Biberoğlu G, Ezgü FS, Ballabio A, Öztekin O, Dursun O.
Turk J Pediatr. 2014 Jul-Aug;56(4):418-22.
PMID:25818962
Placental sulfatase deficiency.
France JT, Liggins GC.
J Clin Endocrinol Metab. 1969 Jan;29(1):138-41. doi: 10.1210/jcem-29-1-138.
PMID:4236358
Placental sulfatase deficiency: maternal and fetal expression of steroid sulfatase deficiency and X-linked ichthyosis.
Bradshaw KD, Carr BR.
Obstet Gynecol Surv. 1986 Jul;41(7):401-13.
PMID:3531932
Neonatal manifestation of multiple sulfatase deficiency.
Busche A, Hennermann JB, Bürger F, Proquitté H, Dierks T, von Arnim-Baas A, Horn D.
Eur J Pediatr. 2009 Aug;168(8):969-73. doi: 10.1007/s00431-008-0871-2. Epub 2008 Dec 10.
PMID:19066960
A systematic cross-sectional survey of multiple sulfatase deficiency.
Cappuccio G, Alagia M, Brunetti-Pierri N.
Mol Genet Metab. 2020 Aug;130(4):283-288. doi: 10.1016/j.ymgme.2020.06.005. Epub 2020 Jun 17.
PMID:32620537
The sulfatase gene family.
Parenti G, Meroni G, Ballabio A.
Curr Opin Genet Dev. 1997 Jun;7(3):386-91. doi: 10.1016/s0959-437x(97)80153-0.
PMID:9229115
© Copyright 2021 鸿泰茂源 版权所有
All Rights Reserved
京ICP备11040441号-3