Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 435

1.

Prenatal diagnosis of free sialic acid storage disorders (SASD).

Aula N, Aula P.

Prenat Diagn. 2006 Aug;26(8):655-8.

PMID:
16715535
2.

Biochemical and molecular analyses of infantile free sialic acid storage disease in North American children.

Kleta R, Aughton DJ, Rivkin MJ, Huizing M, Strovel E, Anikster Y, Orvisky E, Natowicz M, Krasnewich D, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):28-33.

PMID:
12794688
3.

Prenatal detection of free sialic acid storage disease: genetic and biochemical studies in nine families.

Salomäki P, Aula N, Juvonen V, Renlund M, Aula P.

Prenat Diagn. 2001 May;21(5):354-8.

PMID:
11360275
4.

Unraveling the molecular pathogenesis of free sialic acid storage disorders: altered targeting of mutant sialin.

Aula N, Jalanko A, Aula P, Peltonen L.

Mol Genet Metab. 2002 Sep-Oct;77(1-2):99-107.

PMID:
12359136
5.

The spectrum of SLC17A5-gene mutations resulting in free sialic acid-storage diseases indicates some genotype-phenotype correlation.

Aula N, Salomäki P, Timonen R, Verheijen F, Mancini G, Månsson JE, Aula P, Peltonen L.

Am J Hum Genet. 2000 Oct;67(4):832-40. Epub 2000 Aug 17.

6.

Varied mechanisms underlie the free sialic acid storage disorders.

Wreden CC, Wlizla M, Reimer RJ.

J Biol Chem. 2005 Jan 14;280(2):1408-16. Epub 2004 Oct 29.

7.

A novel mutation in the SLC17A5 gene causing both severe and mild phenotypes of free sialic acid storage disease in one inbred Bedouin kindred.

Landau D, Cohen D, Shalev H, Pinsk V, Yerushalmi B, Zeigler M, Birk OS.

Mol Genet Metab. 2004 Jun;82(2):167-72.

PMID:
15172005
8.

Sialic acid storage disease of the Salla phenotype in American monozygous twin female sibs.

Martin RA, Slaugh R, Natowicz M, Pearlman K, Orvisky E, Krasnewich D, Kleta R, Huizing M, Gahl WA.

Am J Med Genet A. 2003 Jul 1;120A(1):23-7.

PMID:
12794687
9.

Clinical, biochemical, and molecular diagnosis of a free sialic acid storage disease patient of moderate severity.

Kleta R, Morse RP, Orvisky E, Krasnewich D, Alroy J, Ucci AA, Bernardini I, Wenger DA, Gahl WA.

Mol Genet Metab. 2004 Jun;82(2):137-43.

PMID:
15172001
10.

A new gene, encoding an anion transporter, is mutated in sialic acid storage diseases.

Verheijen FW, Verbeek E, Aula N, Beerens CE, Havelaar AC, Joosse M, Peltonen L, Aula P, Galjaard H, van der Spek PJ, Mancini GM.

Nat Genet. 1999 Dec;23(4):462-5.

PMID:
10581036
11.

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.

12.

An Italian severe Salla disease variant associated with a SLC17A5 mutation earlier described in infantile sialic acid storage disease.

Biancheri R, Verbeek E, Rossi A, Gaggero R, Roccatagliata L, Gatti R, van Diggelen O, Verheijen FW, Mancini GM.

Clin Genet. 2002 Jun;61(6):443-7.

PMID:
12121352
13.

Sialin expression in the CNS implicates extralysosomal function in neurons.

Aula N, Kopra O, Jalanko A, Peltonen L.

Neurobiol Dis. 2004 Mar;15(2):251-61.

PMID:
15006695
14.

Clinical, morphological, and molecular aspects of sialic acid storage disease manifesting in utero.

Froissart R, Cheillan D, Bouvier R, Tourret S, Bonnet V, Piraud M, Maire I.

J Med Genet. 2005 Nov;42(11):829-36. Epub 2005 Apr 1.

15.

Homozygosity for the p.K136E mutation in the SLC17A5 gene as cause of an Italian severe Salla disease.

Biancheri R, Rossi A, Verbeek HA, Schot R, Corsolini F, Assereto S, Mancini GM, Verheijen FW, Minetti C, Filocamo M.

Neurogenetics. 2005 Dec;6(4):195-9. Epub 2005 Sep 17.

PMID:
16170568
16.
17.

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.

18.

The inborn errors of sialic acid metabolism and their laboratory investigation.

Gopaul KP, Crook MA.

Clin Lab. 2006;52(3-4):155-69. Review.

PMID:
16584062
19.

Haplotype analysis in prenatal diagnosis and carrier identification of Salla disease.

Schleutker J, Sistonen P, Aula P.

J Med Genet. 1996 Jan;33(1):36-41.

20.

Functional characterization of wild-type and mutant human sialin.

Morin P, Sagné C, Gasnier B.

EMBO J. 2004 Nov 24;23(23):4560-70. Epub 2004 Oct 28.

Supplemental Content

Support Center