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Results: 1 to 20 of 45

PubMed (OMIM) Links for Gene (Select 26503)

1.

Identification of a vesicular aspartate transporter.

Miyaji T, Echigo N, Hiasa M, Senoh S, Omote H, Moriyama Y.

Proc Natl Acad Sci U S A. 2008 Aug 19;105(33):11720-4. doi: 10.1073/pnas.0804015105. Epub 2008 Aug 11.

2.

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
3.

Genome-wide SNP arrays as a diagnostic tool: clinical description, genetic mapping, and molecular characterization of Salla disease in an Old Order Mennonite population.

Strauss KA, Puffenberger EG, Craig DW, Panganiban CB, Lee AM, Hu-Lince D, Stephan DA, Morton DH.

Am J Med Genet A. 2005 Oct 15;138A(3):262-7.

PMID:
16158439
4.

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.

5.

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.

6.

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
7.

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
8.

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
9.

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.

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.

Recurrent nonimmune hydrops fetalis: a rare presentation of sialic acid storage disease.

Lefebvre G, Wehbe G, Heron D, Vautjoer Brouzes D, Choukroun JB, Darbois Y.

Genet Couns. 1999;10(3):277-84.

PMID:
10546100
12.
13.

Clinical spectrum of infantile free sialic acid storage disease.

Lemyre E, Russo P, Melançon SB, Gagné R, Potier M, Lambert M.

Am J Med Genet. 1999 Feb 19;82(5):385-91. Review.

PMID:
10069709
14.

Purification of the lysosomal sialic acid transporter. Functional characteristics of a monocarboxylate transporter.

Havelaar AC, Mancini GM, Beerens CE, Souren RM, Verheijen FW.

J Biol Chem. 1998 Dec 18;273(51):34568-74.

15.

A physical map of the 6q14-q15 region harboring the locus for the lysosomal membrane sialic acid transport defect.

Leppänen P, Isosomppi J, Schleutker J, Aula P, Peltonen L.

Genomics. 1996 Oct 1;37(1):62-7.

PMID:
8921371
16.

The genetic locus for free sialic acid storage disease maps to the long arm of chromosome 6.

Haataja L, Schleutker J, Laine AP, Renlund M, Savontaus ML, Dib C, Weissenbach J, Peltonen L, Aula P.

Am J Hum Genet. 1994 Jun;54(6):1042-9.

17.

Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder.

Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Aärimaa T, Turpeinen U, Renlund M, Aula P.

Neuropediatrics. 1994 Oct;25(5):238-44.

PMID:
7885532
18.

Infantile sialic acid storage disease: biochemical studies.

Berra B, Gornati R, Rapelli S, Gatti R, Mancini GM, Ciana G, Bembi B.

Am J Med Genet. 1995 Jul 31;58(1):24-31.

PMID:
7573152
19.
20.

Linkage disequilibrium utilized to establish a refined genetic position of the Salla disease locus on 6q14-q15.

Schleutker J, Laine AP, Haataja L, Renlund M, Weissenbach J, Aula P, Peltonen L.

Genomics. 1995 May 20;27(2):286-92.

PMID:
7557994
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