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Volumn 113, Issue , 2013, Pages 1707-1708

Gangliosidoses

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EID: 84876834907     PISSN: 00729752     EISSN: None     Source Type: Book Series    
DOI: 10.1016/B978-0-444-59565-2.00039-3     Document Type: Chapter
Times cited : (42)

References (11)
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    • GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects
    • Brunetti-Pierri N., Scaglia F. GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects. Mol Genet Metab 2008, 94:391-396.
    • (2008) Mol Genet Metab , vol.94 , pp. 391-396
    • Brunetti-Pierri, N.1    Scaglia, F.2
  • 2
    • 33751312489 scopus 로고    scopus 로고
    • Neuroimaging findings in infantile GM1 gangliosidosis
    • Erol I., Alehan F., Pourbagher M.A., et al. Neuroimaging findings in infantile GM1 gangliosidosis. Eur J Paediatr Neurol 2006, 10:245-248.
    • (2006) Eur J Paediatr Neurol , vol.10 , pp. 245-248
    • Erol, I.1    Alehan, F.2    Pourbagher, M.A.3
  • 4
    • 20844457438 scopus 로고    scopus 로고
    • The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis
    • Frey L.C., Ringel S.P., Filley C.M. The natural history of cognitive dysfunction in late-onset GM2 gangliosidosis. Arch Neurol 2005, 62:989-994.
    • (2005) Arch Neurol , vol.62 , pp. 989-994
    • Frey, L.C.1    Ringel, S.P.2    Filley, C.M.3
  • 5
    • 34547920414 scopus 로고    scopus 로고
    • Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis
    • Gort L., Santamaria R., Grinberg D., et al. Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis. Clin Genet 2007, 72:109-111.
    • (2007) Clin Genet , vol.72 , pp. 109-111
    • Gort, L.1    Santamaria, R.2    Grinberg, D.3
  • 6
    • 79959689098 scopus 로고    scopus 로고
    • Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency
    • Higaki K., Li L., Bahrudin U., et al. Chemical chaperone therapy: chaperone effect on mutant enzyme and cellular pathophysiology in β-galactosidase deficiency. Hum Mutat 2011, 32:843-852.
    • (2011) Hum Mutat , vol.32 , pp. 843-852
    • Higaki, K.1    Li, L.2    Bahrudin, U.3
  • 7
    • 33750944986 scopus 로고    scopus 로고
    • The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported
    • Maegawa G.H., Stockley T., Tropak M., et al. The natural history of juvenile or subacute GM2 gangliosidosis: 21 new cases and literature review of 134 previously reported. Pediatrics 2006, 118:e1550-e1562.
    • (2006) Pediatrics , vol.118
    • Maegawa, G.H.1    Stockley, T.2    Tropak, M.3
  • 8
    • 84897956543 scopus 로고    scopus 로고
    • Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up
    • Masciullo M., Santoro M., Modoni A., et al. Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up. J Inherit Metab Dis Sep 2010, 4:1-7. http://dx.doi.org/10.1007/s10545-010-9186-3.
    • (2010) J Inherit Metab Dis Sep , vol.4 , pp. 1-7
    • Masciullo, M.1    Santoro, M.2    Modoni, A.3
  • 9
    • 79957890647 scopus 로고    scopus 로고
    • Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis
    • Matsuoka K., Tamura T., Tsuji D., et al. Therapeutic potential of intracerebroventricular replacement of modified human β-hexosaminidase B for GM2 gangliosidosis. Mol Ther 2011, 19:1017-1024.
    • (2011) Mol Ther , vol.19 , pp. 1017-1024
    • Matsuoka, K.1    Tamura, T.2    Tsuji, D.3
  • 10
    • 27844573882 scopus 로고    scopus 로고
    • Dystonia and Parkinsonism in GM1 type 3 gangliosidosis
    • Roze E., Paschke E., Lopez N., et al. Dystonia and Parkinsonism in GM1 type 3 gangliosidosis. Mov Disord 2005, 20:1366-1369.
    • (2005) Mov Disord , vol.20 , pp. 1366-1369
    • Roze, E.1    Paschke, E.2    Lopez, N.3
  • 11
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    • Chromatographic separation of human brain gangliosides
    • Svennerholm L. Chromatographic separation of human brain gangliosides. J Neurochem 1963, 10:613-623.
    • (1963) J Neurochem , vol.10 , pp. 613-623
    • Svennerholm, L.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.