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名词信息
中 文 名:
GM2神经节苷脂贮积病
英 文 名:
GM2 Gangliosidosis
中文又称:
GM2神经节苷脂沉积症
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
GM2 Gangliosidosis
相关文献:
GM2 gangliosidosis AB variant: first case of late onset and review of the literature.
Ganne B, Dauriat B, Richard L, Lamari F, Ghorab K, Magy L, Benkirane M, Perani A, Marquet V, Calvas P, Yardin C, Bourthoumieu S.
Neurol Sci. 2022 Nov;43(11):6517-6527. doi: 10.1007/s10072-022-06270-x. Epub 2022 Aug 4.
PMID:35925454
Genetics and Therapies for GM2 Gangliosidosis.
Cachon-Gonzalez MB, Zaccariotto E, Cox TM.
Curr Gene Ther. 2018;18(2):68-89. doi: 10.2174/1566523218666180404162622.
PMID:29618308
Efficacy and safety of miglustat in the treatment of GM2 gangliosidosis: A systematic review.
Mansouri V, Tavasoli AR, Khodarahmi M, Dakkali MS, Daneshfar S, Ashrafi MR, Heidari M, Hosseinpour S, Sharifianjazi F, Bemanalizadeh M.
Eur J Neurol. 2023 Sep;30(9):2919-2945. doi: 10.1111/ene.15871. Epub 2023 Jun 8.
PMID:37209042
GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.
Leal AF, Benincore-Flórez E, Solano-Galarza D, Garzón Jaramillo RG, Echeverri-Peña OY, Suarez DA, Alméciga-Díaz CJ, Espejo-Mojica AJ.
Int J Mol Sci. 2020 Aug 27;21(17):6213. doi: 10.3390/ijms21176213.
PMID:32867370
Animal models of GM2 gangliosidosis: utility and limitations.
Lawson CA, Martin DR.
Appl Clin Genet. 2016 Jul 20;9:111-20. doi: 10.2147/TACG.S85354. eCollection 2016.
PMID:27499644
Gene Therapy of Sphingolipid Metabolic Disorders.
Shaimardanova AA, Solovyeva VV, Issa SS, Rizvanov AA.
Int J Mol Sci. 2023 Feb 11;24(4):3627. doi: 10.3390/ijms24043627.
PMID:36835039
Biochemical Correction of GM2 Ganglioside Accumulation in AB-Variant GM2 Gangliosidosis.
Deschenes NM, Cheng C, Ryckman AE, Quinville BM, Khanal P, Mitchell M, Chen Z, Sangrar W, Gray SJ, Walia JS.
Int J Mol Sci. 2023 May 24;24(11):9217. doi: 10.3390/ijms24119217.
PMID:37298170
GM2 gangliosidosis AB variant: novel mutation from India - a case report with a review.
Sheth J, Datar C, Mistri M, Bhavsar R, Sheth F, Shah K.
BMC Pediatr. 2016 Jul 11;16:88. doi: 10.1186/s12887-016-0626-6.
PMID:27402091
[GM2 gangliosidosis].
Tsuji S.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):177-9.
PMID:10434623
Efficacy of Adeno-Associated Virus Serotype 9-Mediated Gene Therapy for AB-Variant GM2 Gangliosidosis.
Vyas M, Deschenes NM, Osmon KJL, Chen Z, Ahmad I, Kot S, Thompson P, Richmond C, Gray SJ, Walia JS.
Int J Mol Sci. 2023 Sep 27;24(19):14611. doi: 10.3390/ijms241914611.
PMID:37834060
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