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Journal Abstract Search

306 related items for PubMed ID: 28476546

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  • 3. The GM1 and GM2 Gangliosidoses: Natural History and Progress toward Therapy.
    Regier DS, Proia RL, D'Azzo A, Tifft CJ.
    Pediatr Endocrinol Rev; 2016 Jun; 13 Suppl 1(Suppl 1):663-73. PubMed ID: 27491214
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  • 4. A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.
    Kılıç M, Kasapkara ÇS, Kılavuz S, Mungan NÖ, Biberoğlu G.
    Metab Brain Dis; 2019 Apr; 34(2):495-503. PubMed ID: 30712135
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  • 7. Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.
    Fischetto R, Palladino V, Mancardi MM, Giacomini T, Palladino S, Gaeta A, Di Rocco M, Zampini L, Lassandro G, Favia V, Tripaldi ME, Strisciuglio P, Romano A, Severino M, Morrone A, Giordano P.
    Mol Genet Genomic Med; 2020 Oct; 8(10):e1371. PubMed ID: 32779865
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  • 10. Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.
    Jeyakumar M, Thomas R, Elliot-Smith E, Smith DA, van der Spoel AC, d'Azzo A, Perry VH, Butters TD, Dwek RA, Platt FM.
    Brain; 2003 Apr; 126(Pt 4):974-87. PubMed ID: 12615653
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  • 12. Biomarkers of central nervous system inflammation in infantile and juvenile gangliosidoses.
    Utz JR, Crutcher T, Schneider J, Sorgen P, Whitley CB.
    Mol Genet Metab; 2015 Feb; 114(2):274-80. PubMed ID: 25557439
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  • 13. Gangliosides and gangliosidoses: principles of molecular and metabolic pathogenesis.
    Sandhoff K, Harzer K.
    J Neurosci; 2013 Jun 19; 33(25):10195-208. PubMed ID: 23785136
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  • 14. The juvenile gangliosidoses: A timeline of clinical change.
    King KE, Kim S, Whitley CB, Jarnes-Utz JR.
    Mol Genet Metab Rep; 2020 Dec 19; 25():100676. PubMed ID: 33240792
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  • 17. Accumulation of lysosphingolipids in tissues from patients with GM1 and GM2 gangliosidoses.
    Kobayashi T, Goto I, Okada S, Orii T, Ohno K, Nakano T.
    J Neurochem; 1992 Oct 19; 59(4):1452-8. PubMed ID: 1402895
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  • 19. A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.
    Fields T, Patterson M, Bremova-Ertl T, Belcher G, Billington I, Churchill GC, Davis W, Evans W, Flint S, Galione A, Granzer U, Greenfield J, Karl R, Kay R, Lewi D, Mathieson T, Meyer T, Pangonis D, Platt FM, Tsang L, Verburg C, Factor M, Strupp M.
    Trials; 2021 Jan 22; 22(1):84. PubMed ID: 33482890
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