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juvenile GM2 Gangliosidosis相关文献:
Sandhoff Disease.
Xiao C, Tifft C, Toro C.
2022 Apr 14. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:35420740
Tay-Sachs Disease.
Lui F, Ramani PK, Parayil Sankaran B.
2024 Oct 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2026 Jan–.
PMID:33232090
The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported.
Maegawa GH, Stockley T, Tropak M, Banwell B, Blaser S, Kok F, Giugliani R, Mahuran D, Clarke JT.
Pediatrics. 2006 Nov;118(5):e1550-62. doi: 10.1542/peds.2006-0588. Epub 2006 Oct 2.
PMID:17015493
Juvenile GM2 gangliosidosis variant B1: clinical and biochemical study in seven patients.
Maia M, Alves D, Ribeiro G, Pinto R, Sa Miranda MC.
Neuropediatrics. 1990 Feb;21(1):18-23. doi: 10.1055/s-2008-1071451.
PMID:2138256
[Juvenile GM2 gangliosidosis].
Chazalette JP.
Pediatrie. 1971 Dec;26(8):903-5.
PMID:5138741
HEXA Disorders.
Toro C, Shirvan L, Tifft C.
1999 Mar 11 [updated 2020 Oct 1]. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026.
PMID:20301397
Dual-vector rAAVrh8 gene therapy for GM2 gangliosidosis: a phase 1/2 trial.
Eichler F, Cataltepe OI, Daci R, Puri AS, Taghian T, Jiang X, Shazeeb MS, Kuhn A, Hader A, Celik H, Vardar Z, Lewis CJ, Artinian R, Nagy A, Vachha B, Thompson R, Gallagher T, Bateman S, Parzych J, Spanakis SG, Vaughn TA, Pier K, De Boever E, Abbott MA, D Ambrosio E, Kokoski D, Blackwood M, Drummond E, Ratai EM, Townsend EL, McLaughlin H, Tifft CJ, Keeler AM, Sena-Esteves M, Gray-Edwards HL, Flotte TR.
Nat Med. 2025 Sep;31(9):2927-2935. doi: 10.1038/s41591-025-03822-4. Epub 2025 Aug 15.
PMID:40817303
GM1 and GM2-Gangliosidosis: Clinical Features, Neuroimaging Findings and Electroencephalography.
Karimzadeh P, Ebrahimi M, Etemad K, Ahmad Abadi F, Hosseini Nezhad Z.
Iran J Child Neurol. 2024 Spring;18(2):127-140. doi: 10.22037/ijcn.v18i2.40751. Epub 2024 Mar 12.
PMID:38617391
Juvenile GM2 gangliosidosis: partial deficiency of hexosaminidase A.
Okada S, Veath ML, O'Brien JS.
J Pediatr. 1970 Dec;77(6):1063-5. doi: 10.1016/s0022-3476(70)80096-8.
PMID:5486623
Substrate reduction therapy in juvenile GM2 gangliosidosis.
Maegawa GH, Banwell BL, Blaser S, Sorge G, Toplak M, Ackerley C, Hawkins C, Hayes J, Clarke JT.
Mol Genet Metab. 2009 Sep-Oct;98(1-2):215-24. doi: 10.1016/j.ymgme.2009.06.005. Epub 2009 Jun 12.
PMID:19595619
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