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    Results: 7

    1.

    In response to "Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS" by van den Bosch et al.

    Albersen M, van der Ham M, Verhoeven-Duif NM, Groenendaal F, de Sain-van der Velden MG.

    J Inherit Metab Dis. 2012 Jan;35(1):177. doi: 10.1007/s10545-011-9414-5. Epub 2011 Nov 15. No abstract available.

    PMID:
    22083207
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    2.

    Functional characterization of vesicular excitatory amino acid transport by human sialin.

    Miyaji T, Omote H, Moriyama Y.

    J Neurochem. 2011 Oct;119(1):1-5. doi: 10.1111/j.1471-4159.2011.07388.x. Epub 2011 Aug 22.

    PMID:
    21781115
    [PubMed - indexed for MEDLINE]
    3.

    Prenatal screening of sialic acid storage disease and confirmation in cultured fibroblasts by LC-MS/MS.

    van den Bosch J, Oemardien LF, Srebniak MI, Piraud M, Huijmans JG, Verheijen FW, Ruijter GJ.

    J Inherit Metab Dis. 2011 Oct;34(5):1069-73. doi: 10.1007/s10545-011-9351-3. Epub 2011 May 27.

    PMID:
    21617927
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    4.

    Free sialic acid storage disease mimicking cerebral palsy and revealed by blood smear examination.

    Debray FG, Lefebvre C, Colinet S, Segers K, Stevens R.

    J Pediatr. 2011 Jan;158(1):165, 165.e1. doi: 10.1016/j.jpeds.2010.06.057. Epub 2010 Aug 21. No abstract available.

    PMID:
    20728092
    [PubMed - indexed for MEDLINE]
    5.

    Free sialic acid storage disease without sialuria.

    Mochel F, Yang B, Barritault J, Thompson JN, Engelke UF, McNeill NH, Benko WS, Kaneski CR, Adams DR, Tsokos M, Abu-Asab M, Huizing M, Seguin F, Wevers RA, Ding J, Verheijen FW, Schiffmann R.

    Ann Neurol. 2009 Jun;65(6):753-7. doi: 10.1002/ana.21624.

    PMID:
    19557856
    [PubMed - indexed for MEDLINE]
    Free PMC Article
    6.

    Lymphocytic vacuolization in sialic acid storage disease.

    Kuskonmaz B, Unal S, Cördükcü E, Aydin H, Coskun T, Gurgey A, Gumruk F.

    Am J Hematol. 2008 Oct;83(10):821. No abstract available.

    PMID:
    18050357
    [PubMed - indexed for MEDLINE]
    7.

    G328E and G409E sialin missense mutations similarly impair transport activity, but differentially affect trafficking.

    Myall NJ, Wreden CC, Wlizla M, Reimer RJ.

    Mol Genet Metab. 2007 Dec;92(4):371-4. Epub 2007 Oct 22.

    PMID:
    17933575
    [PubMed - indexed for MEDLINE]
    Free PMC Article

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