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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
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
GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.
Brunetti-Pierri N, Scaglia F.
Mol Genet Metab. 2008 Aug;94(4):391-396. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3.
PMID:18524657
[GM2 gangliosidosis].
Tsuji S.
Ryoikibetsu Shokogun Shirizu. 1999;(27 Pt 2):177-9.
PMID:10434623
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
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
[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
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
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
GM2 gangliosidosis in British Jacob sheep.
Wessels ME, Holmes JP, Jeffrey M, Jackson M, Mackintosh A, Kolodny EH, Zeng BJ, Wang CB, Scholes SF.
J Comp Pathol. 2014 Feb-Apr;150(2-3):253-7. doi: 10.1016/j.jcpa.2013.10.003. Epub 2013 Oct 23.
PMID:24309906
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