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名词信息
中 文 名:
醛缩酶缺乏症
英 文 名:
aldolase 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
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Pubmed相关的文献
aldolase deficiency
相关文献:
Fructose-1-Phosphate Aldolase Deficiency.
Ahmad U, Sharma J.
2023 Apr 17. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:32491693
[Aldolase A deficiency].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 2001;(36):35-6.
PMID:11596407
Fructose-1,6-bisphosphate and aldolase mediate glucose sensing by AMPK.
Zhang CS, Hawley SA, Zong Y, Li M, Wang Z, Gray A, Ma T, Cui J, Feng JW, Zhu M, Wu YQ, Li TY, Ye Z, Lin SY, Yin H, Piao HL, Hardie DG, Lin SC.
Nature. 2017 Aug 3;548(7665):112-116. doi: 10.1038/nature23275. Epub 2017 Jul 19.
PMID:28723898
Glycogen Storage Disease.
Stone WL, Basit H, Adil A.
2023 May 29. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2024 Jan–.
PMID:29083788
Aldolase A deficiency: Report of new cases and literature review.
Papadopoulos C, Svingou M, Kekou K, Vergnaud S, Xirou S, Niotakis G, Papadimas GK.
Mol Genet Metab Rep. 2021 Feb 23;27:100730. doi: 10.1016/j.ymgmr.2021.100730. eCollection 2021 Jun.
PMID:33665120
Carnitine Inborn Errors of Metabolism.
Almannai M, Alfadhel M, El-Hattab AW.
Molecules. 2019 Sep 6;24(18):3251. doi: 10.3390/molecules24183251.
PMID:31500110
Dihydroxyacetone phosphate signals glucose availability to mTORC1.
Orozco JM, Krawczyk PA, Scaria SM, Cangelosi AL, Chan SH, Kunchok T, Lewis CA, Sabatini DM.
Nat Metab. 2020 Sep;2(9):893-901. doi: 10.1038/s42255-020-0250-5. Epub 2020 Jul 27.
PMID:32719541
Aldolase is a sensor for both low and high glucose, linking to AMPK and mTORC1.
Li M, Zhang CS, Feng JW, Wei X, Zhang C, Xie C, Wu Y, Hawley SA, Atrih A, Lamont DJ, Wang Z, Piao HL, Hardie DG, Lin SC.
Cell Res. 2021 Apr;31(4):478-481. doi: 10.1038/s41422-020-00456-8. Epub 2020 Dec 21.
PMID:33349646
A new phenotype of aldolase a deficiency in a 14 year-old boy with epilepsy and rhabdomyolysis - case report.
Santoro L, Pjetraj D, Velmishi V, Campana C, Catassi C, Dionisi-Vici C, Maiorana A.
Ital J Pediatr. 2022 Mar 4;48(1):39. doi: 10.1186/s13052-022-01228-3.
PMID:35246226
Patients With Aldolase B Deficiency Are Characterized by Increased Intrahepatic Triglyceride Content.
Simons N, Debray FG, Schaper NC, Kooi ME, Feskens EJM, Hollak CEM, Lindeboom L, Koek GH, Bons JAP, Lefeber DJ, Hodson L, Schalkwijk CG, Stehouwer CDA, Cassiman D, Brouwers MCGJ.
J Clin Endocrinol Metab. 2019 Nov 1;104(11):5056-5064. doi: 10.1210/jc.2018-02795.
PMID:30901028
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