Warning: The NCBI web site requires JavaScript to function. more...
Generate a file for use with external citation management software.
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.
Related citations
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.
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.
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.
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.
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.
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.
Filters: Manage Filters