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Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

202 related items for PubMed ID: 33738443

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  • 7. Substrate-reduction therapy with miglustat for glycosphingolipid storage disorders affecting the brain.
    Lachmann RH.
    Expert Rev Endocrinol Metab; 2009 May; 4(3):217-224. PubMed ID: 30743792
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  • 11. Annual severity increment score as a tool for stratifying patients with Niemann-Pick disease type C and for recruitment to clinical trials.
    Cortina-Borja M, Te Vruchte D, Mengel E, Amraoui Y, Imrie J, Jones SA, I Dali C, Fineran P, Kirkegaard T, Runz H, Lachmann R, Bremova-Ertl T, Strupp M, Platt FM.
    Orphanet J Rare Dis; 2018 Aug 16; 13(1):143. PubMed ID: 30115089
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  • 13. Different Trafficking Phenotypes of Niemann-Pick C1 Gene Mutations Correlate with Various Alterations in Lipid Storage, Membrane Composition and Miglustat Amenability.
    Brogden G, Shammas H, Walters F, Maalouf K, Das AM, Naim HY, Rizk S.
    Int J Mol Sci; 2020 Mar 19; 21(6):. PubMed ID: 32204338
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  • 14. Main Olfactory and Vomeronasal Epithelium Are Differently Affected in Niemann-Pick Disease Type C1.
    Witt M, Thiemer R, Meyer A, Schmitt O, Wree A.
    Int J Mol Sci; 2018 Nov 12; 19(11):. PubMed ID: 30424529
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  • 16. A murine Niemann-Pick C1 I1061T knock-in model recapitulates the pathological features of the most prevalent human disease allele.
    Praggastis M, Tortelli B, Zhang J, Fujiwara H, Sidhu R, Chacko A, Chen Z, Chung C, Lieberman AP, Sikora J, Davidson C, Walkley SU, Pipalia NH, Maxfield FR, Schaffer JE, Ory DS.
    J Neurosci; 2015 May 27; 35(21):8091-106. PubMed ID: 26019327
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  • 19. 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 27; 118(5):e1550-62. PubMed ID: 17015493
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