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Results: 1 to 20 of 103

Similar articles for PubMed (Select 20301643)

1.

Free Sialic Acid Storage Disorders.

Adams D, Gahl WA.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2003 Jun 13 [updated 2013 Jun 06].

2.

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
3.

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

Aula N, Aula P.

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

PMID:
16715535
4.

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
5.

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
6.

Novel form of intermediate salla disease: clinical and neuroimaging features.

Morse RP, Kleta R, Alroy J, Gahl WA.

J Child Neurol. 2005 Oct;20(10):814-6.

PMID:
16417876
7.

[Lysosomal membrane transport disorders--cystinosis and sialic acid storage disorders (Salla disease, ISSD)].

Yano T, Ohno K.

Nihon Rinsho. 1995 Dec;53(12):3068-71. Review. Japanese.

PMID:
8577060
8.

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
9.

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
10.

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.

11.

Prenatal detection of Salla disease based upon increased free sialic acid in amniocytes.

Renlund M, Aula P.

Am J Med Genet. 1987 Oct;28(2):377-84.

PMID:
3425617
12.

Neuronal Ceroid-Lipofuscinoses.

Mole SE, Williams RE.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2001 Oct 10 [updated 2013 Aug 01].

13.

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
14.

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.

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.

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
17.

Glycogen Storage Disease Type IV.

Magoulas PL, El-Hattab AW.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2013 Jan 03.

18.

Disorders of Intracellular Cobalamin Metabolism.

Carrillo-Carrasco N, Adams D, Venditti CP.

In: Pagon RA, Adam MP, Ardinger HH, Wallace SE, Amemiya A, Bean LJH, Bird TD, Dolan CR, Fong CT, Smith RJH, Stephens K, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2015.
2008 Feb 25 [updated 2013 Nov 21].

19.

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.

20.

Infantile Sialic Acid Storage Disease: Two Unrelated Inuit Cases Homozygous for a Common Novel SLC17A5 Mutation.

Lines MA, Rupar CA, Rip JW, Baskin B, Ray PN, Hegele RA, Grynspan D, Michaud J, Geraghty MT.

JIMD Rep. 2014;12:79-84. doi: 10.1007/8904_2013_247. Epub 2013 Jul 31.

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