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名词信息
中 文 名:
糖原贮积症VII型
英 文 名:
glycogen storage disease type VII
中文又称:
糖原累积病VII型,Tarui病
中文曾称:
名词来源:
所属专业:
神经内科
所属类别:
疾病诊断名词
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Pubmed相关的文献
glycogen storage disease type VII
相关文献:
Glycogen Storage Disease.
Stone WL, John TA, Anastasopoulou C, Basit H, Adil A.
2025 Jan 21. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan–.
PMID:29083788
Novel vectors and approaches for gene therapy in liver diseases.
Maestro S, Weber ND, Zabaleta N, Aldabe R, Gonzalez-Aseguinolaza G.
JHEP Rep. 2021 Apr 30;3(4):100300. doi: 10.1016/j.jhepr.2021.100300. eCollection 2021 Aug.
PMID:34159305
Beneficial Effects of Ketogenic Diet on Phosphofructokinase Deficiency (Glycogen Storage Disease Type VII).
Similä ME, Auranen M, Piirilä PL.
Front Neurol. 2020 Feb 4;11:57. doi: 10.3389/fneur.2020.00057. eCollection 2020.
PMID:32117019
[Type VII glycogen storage disease].
Nakajima H, Hamaguchi T, Yamasaki T, Noguchi T, Tarui S.
Ryoikibetsu Shokogun Shirizu. 1998;(18 Pt 1):51-5.
PMID:9589987
Glycogen storage disease: clinical, biochemical, and molecular heterogeneity.
Shin YS.
Semin Pediatr Neurol. 2006 Jun;13(2):115-20. doi: 10.1016/j.spen.2006.06.007.
PMID:17027861
Case report: Comprehensive exploration of a novel PFKM mutation in glycogen storage disease Type VII.
Chen Y, Wang X, Ji N, Fang Q, Chang X, Liu M.
Front Genet. 2024 Aug 2;15:1422908. doi: 10.3389/fgene.2024.1422908. eCollection 2024.
PMID:39156960
Metabolic Myopathies.
Tarnopolsky MA.
Continuum (Minneap Minn). 2016 Dec;22(6, Muscle and Neuromuscular Junction Disorders):1829-1851. doi: 10.1212/CON.0000000000000403.
PMID:27922496
Glycogenosis type VII (Tarui's disease): diagnostic considerations and late sequelae.
Ronquist G.
South Med J. 2002 Dec;95(12):1361-2. doi: 10.1097/00007611-200212000-00001.
PMID:12597298
[Glycogenosis type VII (glycogen storage disease type VII, human muscle-phosphofructokinase deficiency, Tarui's disease)].
Yamasaki T, Nakajima H.
Ryoikibetsu Shokogun Shirizu. 2001;(36):28-34.
PMID:11596390
Update on polyglucosan storage diseases.
Cenacchi G, Papa V, Costa R, Pegoraro V, Marozzo R, Fanin M, Angelini C.
Virchows Arch. 2019 Dec;475(6):671-686. doi: 10.1007/s00428-019-02633-6. Epub 2019 Jul 30.
PMID:31363843
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