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Items: 8

1.

Prenatal hydrops foetalis associated with infantile free sialic acid storage disease.

Chock VY, Milan KE, Folkins AK, Hazard FK, Bernstein JA, Hintz SR.

J Obstet Gynaecol. 2015;35(8):850-2. doi: 10.3109/01443615.2015.1017558. Epub 2015 Jun 15. No abstract available.

PMID:
26076308
2.

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.

3.

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.

4.

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.

5.

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
6.

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.

7.

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.

8.

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.

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