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juvenile GM2 Gangliosidosis相关文献:
New Approaches to Tay-Sachs Disease Therapy.
Solovyeva VV, Shaimardanova AA, Chulpanova DS, Kitaeva KV, Chakrabarti L, Rizvanov AA.
Front Physiol. 2018 Nov 20;9:1663. doi: 10.3389/fphys.2018.01663. eCollection 2018.
PMID:30524313
Tay-Sachs Disease.
Lui F, Ramani PK, Parayil Sankaran B.
2024 Oct 6. In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 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
Sandhoff Disease.
Xiao C, Tifft C, Toro C.
2022 Apr 14. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:35420740
HEXA Disorders.
Toro C, Shirvan L, Tifft C.
1999 Mar 11 [updated 2020 Oct 1]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025.
PMID:20301397
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
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
Characterization of a phenotypically severe animal model for human AB-Variant GM2 gangliosidosis.
Deschenes NM, Cheng C, Khanal P, Quinville BM, Ryckman AE, Mitchell M, Pshezhetsky AV, Walia JS.
Front Mol Neurosci. 2023 Nov 30;16:1242814. doi: 10.3389/fnmol.2023.1242814. eCollection 2023.
PMID:38098938
[Juvenile GM2 gangliosidosis].
Chazalette JP.
Pediatrie. 1971 Dec;26(8):903-5.
PMID:5138741
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