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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; 2026 Jan–.
PMID:32491693
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
[Aldolase A deficiency].
Tsujino S.
Ryoikibetsu Shokogun Shirizu. 2001;(36):35-6.
PMID:11596407
Physiological consequences of Aldolase C deficiency during lactation.
Votava JA, Fan J, Parks BW.
PLoS One. 2024 Dec 12;19(12):e0315719. doi: 10.1371/journal.pone.0315719. eCollection 2024.
PMID:39666708
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 deficiency].
Mukai T, Kishi H, Kajihara S, Hori K, Miwa S.
Tanpakushitsu Kakusan Koso. 1988 Apr;33(5):652-6.
PMID:3270878
Hereditary fructose intolerance.
Ali M, Rellos P, Cox TM.
J Med Genet. 1998 May;35(5):353-65. doi: 10.1136/jmg.35.5.353.
PMID:9610797
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
Glycogen storage myopathies.
Tsujino S, Nonaka I, DiMauro S.
Neurol Clin. 2000 Feb;18(1):125-50. doi: 10.1016/s0733-8619(05)70181-x.
PMID:10658171
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
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