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:
磷酸己糖激酶缺乏症
英 文 名:
phosphohexokiiiase deficiency
中文又称:
中文曾称:
名词来源:
所属专业:
血液科
所属类别:
疾病诊断名词
加入我的词汇本
Pubmed相关的文献
phosphohexokiiiase deficiency
相关文献:
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C.
Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30.
PMID:34906476
Deficiency of Glucocerebrosidase Activity beyond Gaucher Disease: PSAP and LIMP-2 Dysfunctions.
Pavan E, Peruzzo P, Cattarossi S, Bergamin N, Bordugo A, Sechi A, Scarpa M, Biasizzo J, Colucci F, Dardis A.
Int J Mol Sci. 2024 Jun 16;25(12):6615. doi: 10.3390/ijms25126615.
PMID:38928321
Complement deficiency and disease.
Morgan BP, Walport MJ.
Immunol Today. 1991 Sep;12(9):301-6. doi: 10.1016/0167-5699(91)90003-C.
PMID:1836729
Iron Deficiency, Zinc, Magnesium, Vitamin Deficiencies in Crohn's Disease: Substitute or Not?
Kruis W, Phuong Nguyen G.
Dig Dis. 2016;34(1-2):105-11. doi: 10.1159/000443012. Epub 2016 Mar 16.
PMID:26982488
TRIT1 deficiency: Two novel patients with four novel variants.
Smol T, Brunelle P, Caumes R, Boute-Benejean O, Thuillier C, Figeac M, Ait-Yahya E, Bonte F, Mau-Them FT, Thauvin-Robinet C, Faivre L, Roche-Lestienne C, Manouvrier-Hanu S, Petit F, Ghoumid J.
Eur J Med Genet. 2022 Nov;65(11):104603. doi: 10.1016/j.ejmg.2022.104603. Epub 2022 Aug 29.
PMID:36049610
The expanding spectrum of human coronin 1A deficiency.
Moshous D, de Villartay JP.
Curr Allergy Asthma Rep. 2014 Dec;14(12):481. doi: 10.1007/s11882-014-0481-1.
PMID:25269405
Cell-mediated immunity in nutritional deficiency.
McMurray DN.
Prog Food Nutr Sci. 1984;8(3-4):193-228.
PMID:6396715
Molecular genetics of human antithrombin deficiency.
Perry DJ, Carrell RW.
Hum Mutat. 1996;7(1):7-22. doi: 10.1002/(SICI)1098-1004(1996)7:1<7::AID-HUMU2>3.0.CO;2-B.
PMID:8664906
Complement deficiency and autoimmunity.
Sullivan KE.
Curr Opin Pediatr. 1998 Dec;10(6):600-6. doi: 10.1097/00008480-199810060-00011.
PMID:9848020
The role of the zinc transporter SLC30A2/ZnT2 in transient neonatal zinc deficiency.
Golan Y, Kambe T, Assaraf YG.
Metallomics. 2017 Oct 18;9(10):1352-1366. doi: 10.1039/c7mt00162b.
PMID:28665435
© Copyright 2021 鸿泰茂源 版权所有
All Rights Reserved
京ICP备11040441号-3