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Items: 1 to 20 of 35

1.

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.

2.

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

Aula N, Aula P.

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

PMID:
16715535
3.

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
4.

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
5.

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.

6.

Clinical, biochemical, and cytochemical studies on a Japanese Salla disease case associated with a renal disorder.

Ishiwari K, Kotani M, Suzuki M, Pumbo E, Suzuki A, Kobayashi T, Ueno T, Fukushige T, Kanzaki T, Imada M, Itoh K, Akioka S, Tajima Y, Sakuraba H.

J Hum Genet. 2004;49(12):656-63. Epub 2004 Nov 13.

PMID:
15635485
7.

Neurocognitive profiles in Salla disease.

Alajoki L, Varho T, Posti K, Aula P, Korhonen T.

Dev Med Child Neurol. 2004 Dec;46(12):832-7.

8.

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.

9.

Cerebellar white matter involvement in Salla disease.

Biancheri R, Rossi A, Mancini MG, Minetti C.

Neuroradiology. 2004 Jul;46(7):587-8. Epub 2004 Jun 4. No abstract available.

PMID:
15179531
10.

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
11.

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
12.

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
13.

Two cases of Salla disease in Danish children.

Sønderby Christensen P, Kaad PH, Ostergaard JR.

Acta Paediatr. 2003 Nov;92(11):1357-8. No abstract available.

PMID:
14696864
14.

Quantification of free sialic acid in urine by HPLC-electrospray tandem mass spectrometry: a tool for the diagnosis of sialic acid storage disease.

Valianpour F, Abeling NG, Duran M, Huijmans JG, Kulik W.

Clin Chem. 2004 Feb;50(2):403-9. Epub 2003 Dec 18.

15.

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
16.

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
17.

A case of Salla disease with involvement of the cerebellar white matter.

Linnankivi T, Lönnqvist T, Autti T.

Neuroradiology. 2003 Feb;45(2):107-9. Epub 2003 Jan 16.

PMID:
12592494
18.

Free sialic acid storage (Salla) disease in Sweden.

Erikson A, Aula N, Aula P, Månsson JE.

Acta Paediatr. 2002;91(12):1324-7.

PMID:
12578289
19.

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
20.

Phenotypic spectrum of Salla disease, a free sialic acid storage disorder.

Varho TT, Alajoki LE, Posti KM, Korhonen TT, Renlund MG, Nyman SR, Sillanpää ML, Aula PP.

Pediatr Neurol. 2002 Apr;26(4):267-73.

PMID:
11992753

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