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gangliosidosis相关文献:
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
Senescence-associated beta-galactosidase is lysosomal beta-galactosidase.
Lee BY, Han JA, Im JS, Morrone A, Johung K, Goodwin EC, Kleijer WJ, DiMaio D, Hwang ES.
Aging Cell. 2006 Apr;5(2):187-95. doi: 10.1111/j.1474-9726.2006.00199.x.
PMID:16626397
[GM2 gangliosidosis].
Tsuji S.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):177-9.
PMID:10434623
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
Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.
Stern S, Crisamore K, Li RJ, Pacanowski M, Schuck R.
Clin Transl Sci. 2025 Mar;18(3):e70176. doi: 10.1111/cts.70176.
PMID:40016926
Pharmacological Chaperones for beta-Galactosidase Related to G(M1) -Gangliosidosis and Morquio B: Recent Advances.
Stütz AE, Thonhofer M, Weber P, Wolfsgruber A, Wrodnigg TM.
Chem Rec. 2021 Nov;21(11):2980-2989. doi: 10.1002/tcr.202100269. Epub 2021 Nov 23.
PMID:34816592
[GM1 gangliosidosis--case report].
Obradović S, Laban O, Igrutinović Z, Vuletić B, Vujić A, Dindić J.
Med Pregl. 2010 May-Jun;63(5-6):427-30. doi: 10.2298/mpns1006427o.
PMID:21186560
Clinical and imaging predictors of late-onset GM2 gangliosidosis: A scoping review.
Godbole NP, Haxton E, Rowe OE, Locascio JJ, Schmahmann JD, Eichler FS, Ratai EM, Stephen CD.
Ann Clin Transl Neurol. 2024 Jan;11(1):207-224. doi: 10.1002/acn3.51947. Epub 2023 Nov 27.
PMID:38009419
[GM2 gangliosidosis].
Tanaka A.
Ryoikibetsu Shokogun Shirizu. 2001;(33):758-60.
PMID:11462672
GM1 gangliosidosis: patients with different phenotypic features and novel mutations.
Emecen Sanli M, Dogan M.
J Pediatr Endocrinol Metab. 2023 Apr 13;36(6):602-607. doi: 10.1515/jpem-2022-0630. Print 2023 Jun 27.
PMID:37042746
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